G11V (p.Gly11Val) variant of PCCB (P05166)
G11V (p.Gly11Val) in PCCB (P05166) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
G11V (p.Gly11Val) variant details
- p.Gly11Val
- cosmic curated COSV10509
- Missense
- Variant Prioritization Score for Impact Estimate 0.326
- REVEL 0.41
- ESM-1b 0.00
- AlphaMissense 0.11
- CADD 13.80
- PolyPhen-2 0.04
- SIFT 0.11
- Most common in the Non-Finnish European population (allele frequency 9.2e-07)
- Structural context available