V7A (p.Val7Ala) variant of PCCB (P05166)
V7A (p.Val7Ala) in PCCB (P05166) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
V7A (p.Val7Ala) variant details
- p.Val7Ala
- gnomAD 3-136250395-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.323
- REVEL 0.45
- ESM-1b 0.00
- AlphaMissense 0.08
- CADD 16.40
- PolyPhen-2 0.00
- SIFT 0.01
- Most common in the REMAINING population (allele frequency 1.8e-05)
- Structural context available
- Literature evidence available