H137Y (p.His137Tyr) variant of ABCA3 (Q99758)
H137Y (p.His137Tyr) in ABCA3 (Q99758) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
H137Y (p.His137Tyr) variant details
- p.His137Tyr
- TOPMed rs999747794
- Missense
- Variant Prioritization Score for Impact Estimate 0.496
- REVEL 0.49
- CADD 22.40
- PolyPhen-2 0.39
- SIFT 0.02
- Population evidence available
- Structural context available