P31L (p.Pro31Leu) variant of KMT2A (Q03164)
P31L (p.Pro31Leu) in KMT2A (Q03164) is a missense change. The record also includes variant effect predictions, population frequency data, and published literature.
P31L (p.Pro31Leu) variant details
- p.Pro31Leu
- gnomAD 11-118436604-C-T
- Missense
- REVEL 0.09
- MetaLR 0.30
- MetaSVM -0.61
- CADD 22.50
- PolyPhen-2 0.00
- SIFT 0.00
- Most common in the South Asian population (allele frequency 0.00011)
- Literature evidence available