E40A (p.Glu40Ala) variant of PCCB (P05166)
E40A (p.Glu40Ala) in PCCB (P05166) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
E40A (p.Glu40Ala) variant details
- p.Glu40Ala
- gnomAD 3-136250494-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.486
- REVEL 0.40
- ESM-1b 0.60
- AlphaMissense 0.10
- CADD 23.40
- PolyPhen-2 0.00
- SIFT 0.08
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available