G20D (p.Gly20Asp) variant of PCCB (P05166)
G20D (p.Gly20Asp) in PCCB (P05166) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
G20D (p.Gly20Asp) variant details
- p.Gly20Asp
- gnomAD 3-136250434-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.267
- REVEL 0.30
- ESM-1b 0.01
- AlphaMissense 0.13
- CADD 12.10
- PolyPhen-2 0.13
- SIFT 0.17
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available