A12V (p.Ala12Val) variant of PCCB (P05166)
A12V (p.Ala12Val) in PCCB (P05166) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
A12V (p.Ala12Val) variant details
- p.Ala12Val
- gnomAD 3-136250410-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.286
- REVEL 0.31
- ESM-1b 0.00
- AlphaMissense 0.13
- CADD 20.30
- PolyPhen-2 0.00
- SIFT 0.03
- Most common in the Middle Eastern population (allele frequency 0.00018)
- Structural context available
- Literature evidence available