V25L (p.Val25Leu) variant of PCCB (P05166)
V25L (p.Val25Leu) 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, published literature, and structural context.
V25L (p.Val25Leu) variant details
- p.Val25Leu
- gnomAD 3-136250448-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.237
- REVEL 0.32
- ESM-1b 0.00
- AlphaMissense 0.10
- CADD 7.89
- PolyPhen-2 0.00
- SIFT 0.38
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available