A4V (p.Ala4Val) variant of PCCB (P05166)
A4V (p.Ala4Val) in PCCB (P05166) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
A4V (p.Ala4Val) variant details
- p.Ala4Val
- ExAC rs774667212
- gnomAD rs774667212
- Missense
- Variant Prioritization Score for Impact Estimate 0.511
- REVEL 0.53
- ESM-1b 0.00
- AlphaMissense 0.16
- CADD 9.29
- PolyPhen-2 0.94
- SIFT 0.41
- Most common in the African/African-American population (allele frequency 3.2e-05)
- Structural context available