V99L (p.Val99Leu) variant of ATP6V0A4 (Q9HBG4)
V99L (p.Val99Leu) in ATP6V0A4 (Q9HBG4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; Renal tubular acidosis, distal, 3, with or without sens. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
V99L (p.Val99Leu) variant details
- p.Val99Leu
- rs773766934
- ClinGen CA4505161
- ClinVar RCV002749933
- ClinVar RCV005036637
- Uncertain significance
- Inborn genetic diseases; Renal tubular acidosis, distal, 3, with or without sens
- Missense
- Variant Prioritization Score for Impact Estimate 0.188
- REVEL 0.19
- ESM-1b 0.00
- AlphaMissense 0.12
- MetaLR 0.33
- MetaSVM -0.84
- CADD 6.78
- ClinVar: Uncertain significance (Inborn genetic diseases; Renal tubular acidosis, distal, 3, with)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.0002)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)