S15N (p.Ser15Asn) variant of PCCB (P05166)
S15N (p.Ser15Asn) in PCCB (P05166) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
S15N (p.Ser15Asn) variant details
- p.Ser15Asn
- gnomAD 3-136250419-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.29
- REVEL 0.25
- ESM-1b 0.17
- AlphaMissense 0.16
- CADD 12.40
- PolyPhen-2 0.01
- SIFT 0.09
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available
- Literature evidence available