G14S (p.Gly14Ser) variant of ATP6V1B1 (P15313)
G14S (p.Gly14Ser) in ATP6V1B1 (P15313) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign in the context of not specified; not provided; Renal tubular acidosis with progressive nerve deafn. 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.
G14S (p.Gly14Ser) variant details
- p.Gly14Ser
- rs111306070
- ClinGen CA1700819
- ClinVar RCV000939451
- ClinVar RCV001137237
- Benign/Likely benign
- not specified; not provided; Renal tubular acidosis with progressive nerve deafn
- Missense
- Variant Prioritization Score for Impact Estimate 0.186
- REVEL 0.28
- CADD 0.00
- PolyPhen-2 0.00
- SIFT 0.50
- ClinVar: Benign/Likely benign (not specified; not provided; Renal tubular acidosis with progres)
- EBI: Benign
- UniProt: Benign
- Most common in the HGDP:SAN population (allele frequency 0.083)
- Structural context available
- Cited in: Hereditary Distal Renal Tubular Acidosis. (PMID 31600044)