I56S (p.Ile56Ser) variant of ABCA3 (Q99758)
I56S (p.Ile56Ser) in ABCA3 (Q99758) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
I56S (p.Ile56Ser) variant details
- p.Ile56Ser
- Ensembl rs2093734017
- Missense
- Variant Prioritization Score for Impact Estimate 0.234
- REVEL 0.10
- CADD 20.30
- PolyPhen-2 0.01
- SIFT 0.38
- Most common in the East Asian population (allele frequency 5e-05)
- Structural context available