K91R (p.Lys91Arg) variant of ABCA3 (Q99758)
K91R (p.Lys91Arg) in ABCA3 (Q99758) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
K91R (p.Lys91Arg) variant details
- p.Lys91Arg
- ExAC rs760037090
- TOPMed rs760037090
- gnomAD rs760037090
- Missense
- Variant Prioritization Score for Impact Estimate 0.167
- REVEL 0.21
- CADD 6.98
- PolyPhen-2 0.02
- SIFT 0.42
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available