C125W (p.Cys125Trp) variant of ABCA3 (Q99758)
C125W (p.Cys125Trp) in ABCA3 (Q99758) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
C125W (p.Cys125Trp) variant details
- p.Cys125Trp
- Ensembl rs2141738602
- Missense
- Variant Prioritization Score for Impact Estimate 0.235
- REVEL 0.18
- CADD 18.90
- PolyPhen-2 0.13
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available