A34P (p.Ala34Pro) variant of PDE6B (P35913)
A34P (p.Ala34Pro) 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 0.15 / 1. The record also includes population frequency data and structural context.
A34P (p.Ala34Pro) variant details
- p.Ala34Pro
- rs182545478
- ClinGen CA355906158
- ClinVar RCV001906261
- 1000Genomes rs182545478
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.146
- REVEL 0.14
- MetaLR 0.25
- MetaSVM -0.85
- CADD 1.96
- PolyPhen-2 0.23
- SIFT 0.20
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available