S28G (p.Ser28Gly) variant of PCCA (P05165)
S28G (p.Ser28Gly) in PCCA (P05165) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
S28G (p.Ser28Gly) variant details
- p.Ser28Gly
- gnomAD 13-100089202-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.222
- REVEL 0.24
- ESM-1b 0.00
- AlphaMissense 0.06
- CADD 21.50
- PolyPhen-2 0.00
- SIFT 0.05
- Population evidence available
- Structural context available
- Literature evidence available