I62T (p.Ile62Thr) variant of ABCA3 (Q99758)
I62T (p.Ile62Thr) in ABCA3 (Q99758) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
I62T (p.Ile62Thr) variant details
- p.Ile62Thr
- TOPMed rs1252444330
- gnomAD rs1252444330
- Missense
- Variant Prioritization Score for Impact Estimate 0.441
- REVEL 0.33
- CADD 24.20
- PolyPhen-2 0.37
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available