I120V (p.Ile120Val) variant of ABCA3 (Q99758)
I120V (p.Ile120Val) in ABCA3 (Q99758) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data and structural context.
I120V (p.Ile120Val) variant details
- p.Ile120Val
- rs1202457869
- TOPMed rs1202457869
- gnomAD rs1202457869
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.157
- REVEL 0.18
- CADD 6.93
- PolyPhen-2 0.03
- SIFT 0.72
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available