A34V (p.Ala34Val) variant of PDE6B (P35913)
A34V (p.Ala34Val) in PDE6B (P35913) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign in the context of not provided; Congenital stationary night blindness autosomal dominant 2; Retini. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data, published literature, and structural context.
A34V (p.Ala34Val) variant details
- p.Ala34Val
- rs148829093
- ClinGen CA2793841
- ClinVar RCV000964955
- ClinVar RCV002489380
- Benign/Likely benign
- not provided; Congenital stationary night blindness autosomal dominant 2; Retini
- Missense
- Variant Prioritization Score for Impact Estimate 0.0757
- REVEL 0.03
- MetaLR 0.10
- MetaSVM -1.04
- CADD 0.47
- PolyPhen-2 0.00
- SIFT 0.25
- ClinVar: Benign/Likely benign (not provided; Congenital stationary night blindness autosomal do)
- EBI: Benign
- UniProt: Benign
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available
- Cited in: Nonsyndromic Retinitis Pigmentosa Overview. (PMID 20301590)