L29V (p.Leu29Val) variant of ABCA3 (Q99758)
L29V (p.Leu29Val) in ABCA3 (Q99758) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
L29V (p.Leu29Val) variant details
- p.Leu29Val
- ExAC rs772507862
- gnomAD rs772507862
- Missense
- Variant Prioritization Score for Impact Estimate 0.194
- REVEL 0.03
- CADD 18.90
- PolyPhen-2 0.06
- SIFT 0.13
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available