G11A (p.Gly11Ala) variant of PCCB (P05166)
G11A (p.Gly11Ala) in PCCB (P05166) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
G11A (p.Gly11Ala) variant details
- p.Gly11Ala
- gnomAD 3-136250407-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.322
- REVEL 0.40
- ESM-1b 0.00
- AlphaMissense 0.07
- CADD 11.50
- PolyPhen-2 0.23
- SIFT 0.59
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available