V12G (p.Val12Gly) variant of CFTR (P13569)
V12G (p.Val12Gly) in CFTR (P13569) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
V12G (p.Val12Gly) variant details
- p.Val12Gly
- gnomAD 7-117480129-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.611
- REVEL 0.69
- ESM-1b 0.20
- AlphaMissense 0.17
- MetaLR 0.76
- MetaSVM 0.10
- CADD 24.90
- Most common in the HGDP:DRUZE population (allele frequency 0.1)
- Structural context available
- Literature evidence available