V11A (p.Val11Ala) variant of CFTR (P13569)
V11A (p.Val11Ala) in CFTR (P13569) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes structural context.
V11A (p.Val11Ala) variant details
- p.Val11Ala
- ExAC rs780188806
- gnomAD rs780188806
- Missense
- Variant Prioritization Score for Impact Estimate 0.267
- ESM-1b 0.00
- AlphaMissense 0.10
- Structural context available