V7E (p.Val7Glu) variant of PCCB (P05166)
V7E (p.Val7Glu) in PCCB (P05166) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
V7E (p.Val7Glu) variant details
- p.Val7Glu
- ExAC rs753174948
- gnomAD rs753174948
- Missense
- Variant Prioritization Score for Impact Estimate 0.475
- REVEL 0.59
- ESM-1b 1.00
- AlphaMissense 0.18
- CADD 17.30
- PolyPhen-2 0.01
- SIFT 0.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00028)
- Structural context available