V93F (p.Val93Phe) variant of ABCA1 (O95477)
V93F (p.Val93Phe) 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 0.58 / 1. The record also includes population frequency data and structural context.
V93F (p.Val93Phe) variant details
- p.Val93Phe
- NCI-TCGA Cosmic COSV6606
- cosmic curated COSV66060
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.579
- REVEL 0.57
- MetaLR 0.93
- MetaSVM 1.01
- CADD 20.00
- PolyPhen-2 0.04
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available