V107L (p.Val107Leu) variant of ABCA3 (Q99758)
V107L (p.Val107Leu) in ABCA3 (Q99758) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
V107L (p.Val107Leu) variant details
- p.Val107Leu
- cosmic curated COSV57058
- Ensembl rs1567354581
- Missense
- Variant Prioritization Score for Impact Estimate 0.398
- REVEL 0.27
- CADD 25.10
- PolyPhen-2 0.25
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available