A2T (p.Ala2Thr) variant of ABCA3 (Q99758)
A2T (p.Ala2Thr) in ABCA3 (Q99758) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
A2T (p.Ala2Thr) variant details
- p.Ala2Thr
- gnomAD rs1180809929
- Missense
- Variant Prioritization Score for Impact Estimate 0.426
- REVEL 0.34
- CADD 21.50
- PolyPhen-2 0.04
- SIFT 0.33
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available