K64N (p.Lys64Asn) variant of MMAA (Q8IVH4)
K64N (p.Lys64Asn) 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 0.17 / 1. The record also includes population frequency data and structural context.
K64N (p.Lys64Asn) variant details
- p.Lys64Asn
- NCI-TCGA Cosmic COSV5558
- cosmic curated COSV55582
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.174
- REVEL 0.17
- ESM-1b 0.00
- AlphaMissense 0.10
- CADD 15.00
- PolyPhen-2 0.00
- SIFT 0.37
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the South Asian population (allele frequency 3.5e-05)
- Structural context available