A9E (p.Ala9Glu) variant of PCCB (P05166)
A9E (p.Ala9Glu) in PCCB (P05166) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
A9E (p.Ala9Glu) variant details
- p.Ala9Glu
- gnomAD 3-136250401-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.427
- REVEL 0.52
- ESM-1b 0.96
- AlphaMissense 0.22
- CADD 16.90
- PolyPhen-2 0.18
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available
- Literature evidence available