S27N (p.Ser27Asn) variant of PCCB (P05166)
S27N (p.Ser27Asn) in PCCB (P05166) 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.
S27N (p.Ser27Asn) variant details
- p.Ser27Asn
- gnomAD 3-136250455-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.276
- REVEL 0.31
- ESM-1b 0.00
- AlphaMissense 0.11
- CADD 13.20
- PolyPhen-2 0.03
- SIFT 0.12
- Population evidence available
- Structural context available
- Literature evidence available