K127R (p.Lys127Arg) variant of ABCA1 (O95477)
K127R (p.Lys127Arg) in ABCA1 (O95477) is a missense change. Clinical records from ClinVar and UniProt describe it as likely benign in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
K127R (p.Lys127Arg) variant details
- p.Lys127Arg
- rs1394881972
- NCI-TCGA Cosmic COSV6605
- TOPMed rs1394881972
- gnomAD rs1394881972
- Likely benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.391
- REVEL 0.27
- MetaLR 0.75
- MetaSVM 0.64
- CADD 22.30
- PolyPhen-2 0.00
- SIFT 0.22
- ClinVar: Likely benign (not provided)
- UniProt: Likely benign
- Most common in the East Asian population (allele frequency 5e-05)
- Structural context available