V7G (p.Val7Gly) variant of PCCB (P05166)
V7G (p.Val7Gly) in PCCB (P05166) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
V7G (p.Val7Gly) variant details
- p.Val7Gly
- ExAC rs753174948
- gnomAD rs753174948
- Missense
- Variant Prioritization Score for Impact Estimate 0.343
- REVEL 0.47
- ESM-1b 0.00
- AlphaMissense 0.07
- CADD 19.00
- PolyPhen-2 0.01
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available