V35A (p.Val35Ala) variant of PCCB (P05166)
V35A (p.Val35Ala) in PCCB (P05166) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
V35A (p.Val35Ala) variant details
- p.Val35Ala
- gnomAD 3-136250479-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.436
- REVEL 0.45
- ESM-1b 0.06
- AlphaMissense 0.22
- CADD 23.50
- PolyPhen-2 0.42
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available