M1L (p.Met1Leu) variant of ATP6V1B1 (P15313)
M1L (p.Met1Leu) in ATP6V1B1 (P15313) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Renal tubular acidosis with progressive nerve deafness. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes published literature and structural context.
M1L (p.Met1Leu) variant details
- p.Met1Leu
- rs1553415231
- ClinGen CA347176656
- ClinVar RCV001230448
- ClinVar RCV002491738
- Uncertain significance
- not provided; Renal tubular acidosis with progressive nerve deafness
- Missense
- Variant Prioritization Score for Impact Estimate 0.401
- MetaLR 0.39
- MetaSVM -0.49
- PolyPhen-2 0.11
- SIFT 0.00
- MutPred 0.98
- ClinVar: Uncertain significance (not provided; Renal tubular acidosis with progressive nerve deaf)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Hereditary Distal Renal Tubular Acidosis. (PMID 31600044)