P73T (p.Pro73Thr) variant of ABCA3 (Q99758)
P73T (p.Pro73Thr) in ABCA3 (Q99758) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
P73T (p.Pro73Thr) variant details
- p.Pro73Thr
- ExAC rs746805427
- gnomAD rs746805427
- Missense
- Variant Prioritization Score for Impact Estimate 0.513
- REVEL 0.38
- CADD 20.90
- PolyPhen-2 0.03
- SIFT 0.27
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available