V107A (p.Val107Ala) variant of ABCA3 (Q99758)
V107A (p.Val107Ala) in ABCA3 (Q99758) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
V107A (p.Val107Ala) variant details
- p.Val107Ala
- Ensembl rs1416764724
- Missense
- Variant Prioritization Score for Impact Estimate 0.214
- REVEL 0.19
- CADD 16.20
- PolyPhen-2 0.11
- SIFT 0.18
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available