K121T (p.Lys121Thr) variant of MMUT (P22033)
K121T (p.Lys121Thr) in MMUT (P22033) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data and structural context.
K121T (p.Lys121Thr) variant details
- p.Lys121Thr
- rs1314720800
- NCI-TCGA Cosmic COSV5127
- TOPMed rs1314720800
- gnomAD rs1314720800
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.689
- REVEL 0.69
- CADD 23.10
- PolyPhen-2 0.43
- SIFT 0.01
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Structural context available