R108H (p.Arg108His) variant of ABCA3 (Q99758)
R108H (p.Arg108His) in ABCA3 (Q99758) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data and structural context.
R108H (p.Arg108His) variant details
- p.Arg108His
- cosmic curated COSV10811
- ExAC rs759505278
- gnomAD rs759505278
- Missense
- Variant Prioritization Score for Impact Estimate 0.109
- REVEL 0.12
- CADD 4.89
- PolyPhen-2 0.05
- SIFT 0.20
- Most common in the East Asian population (allele frequency 5e-05)
- Structural context available