R108C (p.Arg108Cys) variant of ABCA3 (Q99758)
R108C (p.Arg108Cys) 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 0.60 / 1. The record also includes population frequency data and structural context.
R108C (p.Arg108Cys) variant details
- p.Arg108Cys
- NCI-TCGA Cosmic COSV5705
- cosmic curated COSV57054
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.599
- REVEL 0.47
- CADD 25.30
- PolyPhen-2 0.89
- SIFT 0.02
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available