Y122C (p.Tyr122Cys) variant of ABCA3 (Q99758)
Y122C (p.Tyr122Cys) in ABCA3 (Q99758) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
Y122C (p.Tyr122Cys) variant details
- p.Tyr122Cys
- ExAC rs757614663
- gnomAD rs757614663
- Missense
- Variant Prioritization Score for Impact Estimate 0.458
- REVEL 0.49
- CADD 22.40
- PolyPhen-2 0.89
- SIFT 0.15
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available