G7W (p.Gly7Trp) variant of PCCA (P05165)
G7W (p.Gly7Trp) in PCCA (P05165) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
G7W (p.Gly7Trp) variant details
- p.Gly7Trp
- gnomAD 13-100089139-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.405
- REVEL 0.45
- ESM-1b 0.00
- AlphaMissense 0.18
- CADD 20.60
- PolyPhen-2 0.78
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 3.5e-05)
- Structural context available
- Literature evidence available