S112T (p.Ser112Thr) variant of ABCA3 (Q99758)
S112T (p.Ser112Thr) in ABCA3 (Q99758) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
S112T (p.Ser112Thr) variant details
- p.Ser112Thr
- Ensembl rs2093731293
- Missense
- Variant Prioritization Score for Impact Estimate 0.236
- REVEL 0.16
- CADD 15.40
- PolyPhen-2 0.07
- SIFT 0.12
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available