R5T (p.Arg5Thr) variant of ABCA3 (Q99758)
R5T (p.Arg5Thr) 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.
R5T (p.Arg5Thr) variant details
- p.Arg5Thr
- gnomAD rs1245878632
- Missense
- Variant Prioritization Score for Impact Estimate 0.427
- REVEL 0.47
- CADD 22.30
- PolyPhen-2 0.04
- SIFT 0.04
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available