A30T (p.Ala30Thr) variant of KMT2C (Q8NEZ4)
A30T (p.Ala30Thr) in KMT2C (Q8NEZ4) is a missense change. The record also includes variant effect predictions and population frequency data.
A30T (p.Ala30Thr) variant details
- p.Ala30Thr
- gnomAD rs1461694611
- Missense
- REVEL 0.34
- CADD 23.30
- PolyPhen-2 0.90
- SIFT 0.22
- Most common in the South Asian population (allele frequency 1.3e-05)