K91N (p.Lys91Asn) variant of ABCA3 (Q99758)
K91N (p.Lys91Asn) in ABCA3 (Q99758) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
K91N (p.Lys91Asn) variant details
- p.Lys91Asn
- TOPMed rs1382854589
- gnomAD rs1382854589
- Missense
- Variant Prioritization Score for Impact Estimate 0.361
- REVEL 0.29
- CADD 17.80
- PolyPhen-2 0.68
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available