K141R (p.Lys141Arg) variant of MMAB (Q96EY8)
K141R (p.Lys141Arg) in MMAB (Q96EY8) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Methylmalonic aciduria, cblB type. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
K141R (p.Lys141Arg) variant details
- p.Lys141Arg
- TOPMed rs1884205260
- Uncertain significance
- Methylmalonic aciduria, cblB type
- Missense
- Variant Prioritization Score for Impact Estimate 0.329
- REVEL 0.14
- ESM-1b 0.00
- AlphaMissense 0.07
- CADD 14.90
- PolyPhen-2 0.01
- SIFT 0.18
- ClinVar: Uncertain significance (Methylmalonic aciduria, cblB type)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.8e-05)
- Structural context available