A9V (p.Ala9Val) variant of PCCA (P05165)
A9V (p.Ala9Val) in PCCA (P05165) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
A9V (p.Ala9Val) variant details
- p.Ala9Val
- TOPMed rs1206164400
- gnomAD rs1206164400
- Missense
- Variant Prioritization Score for Impact Estimate 0.209
- REVEL 0.15
- ESM-1b 0.00
- AlphaMissense 0.10
- CADD 4.63
- PolyPhen-2 0.00
- SIFT 0.65
- Population evidence available
- Structural context available