R63K (p.Arg63Lys) variant of MMAA (Q8IVH4)
R63K (p.Arg63Lys) in MMAA (Q8IVH4) 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 0.38 / 1. The record also includes population frequency data and structural context.
R63K (p.Arg63Lys) variant details
- p.Arg63Lys
- NCI-TCGA Cosmic COSV5557
- cosmic curated COSV55579
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.383
- REVEL 0.31
- ESM-1b 0.00
- AlphaMissense 0.08
- CADD 20.30
- PolyPhen-2 0.03
- SIFT 0.18
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available