V12A (p.Val12Ala) variant of CFTR (P13569)
V12A (p.Val12Ala) in CFTR (P13569) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Cystic fibrosis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
V12A (p.Val12Ala) variant details
- p.Val12Ala
- ExAC rs754221223
- gnomAD rs754221223
- Uncertain significance
- Cystic fibrosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.455
- REVEL 0.40
- ESM-1b 0.00
- AlphaMissense 0.14
- MetaLR 0.69
- MetaSVM -0.01
- CADD 24.80
- ClinVar: Uncertain significance (Cystic fibrosis)
- UniProt: Uncertain significance
- Most common in the 1KG:FIN population (allele frequency 0.0051)
- Structural context available