A24V (p.Ala24Val) variant of PCCB (P05166)
A24V (p.Ala24Val) in PCCB (P05166) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
A24V (p.Ala24Val) variant details
- p.Ala24Val
- ExAC rs775585333
- TOPMed rs775585333
- gnomAD rs775585333
- Missense
- Variant Prioritization Score for Impact Estimate 0.245
- REVEL 0.28
- ESM-1b 0.00
- AlphaMissense 0.12
- CADD 9.99
- PolyPhen-2 0.00
- SIFT 0.60
- Most common in the Non-Finnish European population (allele frequency 6.3e-06)
- Structural context available