A31T (p.Ala31Thr) variant of KMT2C (Q8NEZ4)
A31T (p.Ala31Thr) in KMT2C (Q8NEZ4) is a missense change. The record also includes variant effect predictions and population frequency data.
A31T (p.Ala31Thr) variant details
- p.Ala31Thr
- TOPMed rs1203336192
- Missense
- REVEL 0.37
- CADD 21.90
- PolyPhen-2 0.89
- SIFT 0.95
- Most common in the REMAINING population (allele frequency 1.7e-05)