D36A (p.Asp36Ala) variant of CFTR (P13569)
D36A (p.Asp36Ala) in CFTR (P13569) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Congenital bilateral aplasia of vas deferens from CFTR mutation. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes published literature and structural context.
D36A (p.Asp36Ala) variant details
- p.Asp36Ala
- rs2484968246
- ClinGen CA368987168
- ClinVar RCV003314293
- Uncertain significance
- Congenital bilateral aplasia of vas deferens from CFTR mutation
- Missense
- Variant Prioritization Score for Impact Estimate 0.861
- ESM-1b 1.00
- AlphaMissense 0.69
- ClinVar: Uncertain significance (Congenital bilateral aplasia of vas deferens from CFTR mutation)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Cystic Fibrosis. (PMID 20301428)