A9G (p.Ala9Gly) variant of PCCB (P05166)
A9G (p.Ala9Gly) in PCCB (P05166) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
A9G (p.Ala9Gly) variant details
- p.Ala9Gly
- gnomAD 3-136250401-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.277
- REVEL 0.35
- ESM-1b 0.00
- AlphaMissense 0.09
- CADD 20.70
- PolyPhen-2 0.09
- SIFT 0.04
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available
- Literature evidence available