Y15H (p.Tyr15His) variant of ABCA3 (Q99758)
Y15H (p.Tyr15His) in ABCA3 (Q99758) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data and structural context.
Y15H (p.Tyr15His) variant details
- p.Tyr15His
- Ensembl rs974526109
- Missense
- Variant Prioritization Score for Impact Estimate 0.608
- REVEL 0.58
- CADD 28.00
- PolyPhen-2 0.89
- SIFT 0.00
- Population evidence available
- Structural context available