P138H (p.Pro138His) variant of ABCA3 (Q99758)
P138H (p.Pro138His) in ABCA3 (Q99758) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
P138H (p.Pro138His) variant details
- p.Pro138His
- Ensembl rs2141738514
- Missense
- Variant Prioritization Score for Impact Estimate 0.206
- REVEL 0.21
- CADD 9.59
- PolyPhen-2 0.00
- SIFT 0.25
- Population evidence available
- Structural context available