S85C (p.Ser85Cys) variant of ABCA3 (Q99758)
S85C (p.Ser85Cys) in ABCA3 (Q99758) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data and structural context.
S85C (p.Ser85Cys) variant details
- p.Ser85Cys
- gnomAD rs1327300434
- Missense
- Variant Prioritization Score for Impact Estimate 0.582
- REVEL 0.53
- CADD 25.10
- PolyPhen-2 0.98
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available