G20A (p.Gly20Ala) variant of PCCB (P05166)
G20A (p.Gly20Ala) in PCCB (P05166) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
G20A (p.Gly20Ala) variant details
- p.Gly20Ala
- ExAC rs749205316
- gnomAD rs749205316
- Missense
- Variant Prioritization Score for Impact Estimate 0.244
- REVEL 0.27
- ESM-1b 0.00
- AlphaMissense 0.09
- CADD 9.34
- PolyPhen-2 0.01
- SIFT 0.41
- Most common in the East Asian population (allele frequency 2.6e-05)
- Structural context available