A32T (p.Ala32Thr) variant of KMT2C (Q8NEZ4)
A32T (p.Ala32Thr) in KMT2C (Q8NEZ4) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The record also includes variant effect predictions and population frequency data.
A32T (p.Ala32Thr) variant details
- p.Ala32Thr
- cosmic curated COSV10804
- NCI-TCGA TCGA novel
- TOPMed rs1261470329
- gnomAD rs1261470329
- Variant assessed as somatic; moderate impact.
- Missense
- REVEL 0.25
- CADD 16.40
- PolyPhen-2 0.00
- SIFT 0.72
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the REMAINING population (allele frequency 1.7e-05)