L15V (p.Leu15Val) variant of CFTR (P13569)
L15V (p.Leu15Val) in CFTR (P13569) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
L15V (p.Leu15Val) variant details
- p.Leu15Val
- ExAC rs755405810
- Missense
- Variant Prioritization Score for Impact Estimate 0.411
- REVEL 0.34
- ESM-1b 0.00
- AlphaMissense 0.09
- MetaLR 0.60
- MetaSVM 0.02
- CADD 23.10
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available