S28R (p.Ser28Arg) variant of PCCA (P05165)
S28R (p.Ser28Arg) in PCCA (P05165) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
S28R (p.Ser28Arg) variant details
- p.Ser28Arg
- gnomAD 13-100089204-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.443
- REVEL 0.30
- ESM-1b 0.00
- AlphaMissense 0.15
- CADD 23.20
- PolyPhen-2 0.07
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available