A132T (p.Ala132Thr) variant of ABCA3 (Q99758)
A132T (p.Ala132Thr) in ABCA3 (Q99758) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data and structural context.
A132T (p.Ala132Thr) variant details
- p.Ala132Thr
- cosmic curated COSV10964
- TOPMed rs1029885956
- gnomAD rs1029885956
- Missense
- Variant Prioritization Score for Impact Estimate 0.727
- REVEL 0.70
- CADD 24.50
- PolyPhen-2 0.83
- SIFT 0.03
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available