S13P (p.Ser13Pro) variant of ATP6V0A4 (Q9HBG4)
S13P (p.Ser13Pro) in ATP6V0A4 (Q9HBG4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
S13P (p.Ser13Pro) variant details
- p.Ser13Pro
- rs1807367509
- ClinGen CA369380137
- cosmic curated COSV59480
- ClinVar RCV003666332
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.542
- REVEL 0.54
- ESM-1b 1.00
- AlphaMissense 0.95
- MetaLR 0.46
- MetaSVM 0.03
- CADD 24.80
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 5.4e-06)
- Structural context available