A14P (p.Ala14Pro) variant of PCCA (P05165)
A14P (p.Ala14Pro) in PCCA (P05165) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
A14P (p.Ala14Pro) variant details
- p.Ala14Pro
- gnomAD 13-100089160-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.377
- REVEL 0.41
- ESM-1b 0.00
- AlphaMissense 0.10
- CADD 19.20
- PolyPhen-2 0.23
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available