H86Y (p.His86Tyr) variant of ABCA3 (Q99758)
H86Y (p.His86Tyr) in ABCA3 (Q99758) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
H86Y (p.His86Tyr) variant details
- p.His86Tyr
- TOPMed rs1391232187
- gnomAD rs1391232187
- Missense
- Variant Prioritization Score for Impact Estimate 0.236
- REVEL 0.17
- CADD 19.60
- PolyPhen-2 0.06
- SIFT 0.01
- Most common in the Ashkenazi Jewish population (allele frequency 0.0012)
- Structural context available