V317A (p.Val317Ala) variant of CFTR (P13569)
V317A (p.Val317Ala) in CFTR (P13569) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified; Cystic fibrosis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
V317A (p.Val317Ala) variant details
- p.Val317Ala
- rs1204521684
- ClinGen CA368978444
- ClinVar RCV001834853
- ClinVar RCV003994032
- Uncertain significance
- not specified; Cystic fibrosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.761
- REVEL 0.82
- ESM-1b 1.00
- AlphaMissense 0.56
- MetaLR 0.68
- MetaSVM 0.53
- CADD 27.10
- ClinVar: Uncertain significance (not specified; Cystic fibrosis)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available
- Cited in: Laboratory standards and guidelines for population-based cystic fibrosis carrier screening. (PMID 11280952)
- Cited in: Standards and guidelines for CFTR mutation testing. (PMID 12394352)