A51T (p.Ala51Thr) variant of KMT2C (Q8NEZ4)
A51T (p.Ala51Thr) 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.
A51T (p.Ala51Thr) variant details
- p.Ala51Thr
- NCI-TCGA Cosmic COSV5143
- Ensembl rs2116821157
- Variant assessed as somatic; moderate impact.
- Missense
- REVEL 0.13
- CADD 20.10
- PolyPhen-2 0.01
- SIFT 0.30
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 9.4e-07)