D124G (p.Asp124Gly) variant of ABCA1 (O95477)
D124G (p.Asp124Gly) in ABCA1 (O95477) 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 0.48 / 1. The record also includes population frequency data and structural context.
D124G (p.Asp124Gly) variant details
- p.Asp124Gly
- NCI-TCGA Cosmic COSV1010
- cosmic curated COSV10103
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.484
- REVEL 0.47
- MetaLR 0.61
- MetaSVM 0.05
- CADD 22.70
- PolyPhen-2 0.00
- SIFT 1.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 6.3e-06)
- Structural context available