S28I (p.Ser28Ile) variant of PCCA (P05165)
S28I (p.Ser28Ile) in PCCA (P05165) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
S28I (p.Ser28Ile) variant details
- p.Ser28Ile
- gnomAD 13-100089203-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.284
- REVEL 0.30
- ESM-1b 0.03
- AlphaMissense 0.14
- CADD 22.40
- PolyPhen-2 0.14
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available