H137Q (p.His137Gln) variant of ABCA3 (Q99758)
H137Q (p.His137Gln) 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.
H137Q (p.His137Gln) variant details
- p.His137Gln
- gnomAD rs1223902982
- Missense
- Variant Prioritization Score for Impact Estimate 0.364
- REVEL 0.46
- CADD 21.60
- PolyPhen-2 0.92
- SIFT 0.00
- Population evidence available
- Structural context available