A31V (p.Ala31Val) variant of KMT2C (Q8NEZ4)
A31V (p.Ala31Val) in KMT2C (Q8NEZ4) is a missense change. The record also includes variant effect predictions and population frequency data.
A31V (p.Ala31Val) variant details
- p.Ala31Val
- cosmic curated COSV51469
- Ensembl rs2116821482
- Missense
- REVEL 0.32
- CADD 21.70
- PolyPhen-2 0.85
- SIFT 0.94
- Population evidence available