Y119C (p.Tyr119Cys) variant of ABCA3 (Q99758)
Y119C (p.Tyr119Cys) in ABCA3 (Q99758) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data and structural context.
Y119C (p.Tyr119Cys) variant details
- p.Tyr119Cys
- 1000Genomes rs538323458
- ExAC rs538323458
- TOPMed rs538323458
- gnomAD rs538323458
- Missense
- Variant Prioritization Score for Impact Estimate 0.685
- REVEL 0.73
- CADD 25.30
- PolyPhen-2 0.75
- SIFT 0.01
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available