S61T (p.Ser61Thr) variant of ABCA3 (Q99758)
S61T (p.Ser61Thr) in ABCA3 (Q99758) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data and structural context.
S61T (p.Ser61Thr) variant details
- p.Ser61Thr
- TOPMed rs2093733933
- Missense
- Variant Prioritization Score for Impact Estimate 0.149
- REVEL 0.05
- CADD 14.50
- PolyPhen-2 0.02
- SIFT 0.51
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available