V2A (p.Val2Ala) variant of ATP6V0A4 (Q9HBG4)
V2A (p.Val2Ala) in ATP6V0A4 (Q9HBG4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of Bailey-Bloch congenital myopathy; not specified; Autosomal recessive distal rena. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
V2A (p.Val2Ala) variant details
- p.Val2Ala
- rs10258719
- ClinGen CA4505278
- cosmic curated COSV59476
- ClinVar RCV000245255
- Benign
- Bailey-Bloch congenital myopathy; not specified; Autosomal recessive distal rena
- Missense
- Variant Prioritization Score for Impact Estimate 0.232
- REVEL 0.21
- ESM-1b 0.00
- AlphaMissense 0.04
- MetaLR 0.00
- MetaSVM -0.93
- CADD 17.40
- ClinVar: Benign (Bailey-Bloch congenital myopathy; not specified; Autosomal reces)
- EBI: Benign (in dbSNP:rs10258719)
- UniProt: Benign (in dbSNP:rs10258719)
- Most common in the HGDP:SAN population (allele frequency 1)
- Structural context available
- Cited in: Mutations in ATP6N1B, encoding a new kidney vacuolar proton pump 116-kD subunit, cause recessive distal renal tubular… (PMID 10973252)
- Cited in: Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID 14702039)