A58V (p.Ala58Val) variant of PDE6B (P35913)
A58V (p.Ala58Val) in PDE6B (P35913) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
A58V (p.Ala58Val) variant details
- p.Ala58Val
- rs200898108
- ClinGen CA2793863
- cosmic curated COSV55324
- ClinVar RCV001207751
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.184
- REVEL 0.11
- MetaLR 0.15
- MetaSVM -0.99
- CADD 12.60
- PolyPhen-2 0.00
- SIFT 0.23
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available