A8T (p.Ala8Thr) variant of PDE6B (P35913)
A8T (p.Ala8Thr) in PDE6B (P35913) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Congenital stationary night blindness autosomal dominant 2; Retinitis pigmentosa. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
A8T (p.Ala8Thr) variant details
- p.Ala8Thr
- ExAC rs750974030
- gnomAD rs750974030
- Uncertain significance
- Congenital stationary night blindness autosomal dominant 2; Retinitis pigmentosa
- Missense
- Variant Prioritization Score for Impact Estimate 0.363
- REVEL 0.16
- MetaLR 0.20
- MetaSVM -0.78
- CADD 22.30
- PolyPhen-2 0.04
- SIFT 0.00
- ClinVar: Uncertain significance (Congenital stationary night blindness autosomal dominant 2; Reti)
- UniProt: Uncertain significance
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available