P13H (p.Pro13His) variant of KMT2A (Q03164)
P13H (p.Pro13His) in KMT2A (Q03164) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not provided. The record also includes variant effect predictions and population frequency data.
P13H (p.Pro13His) variant details
- p.Pro13His
- cosmic curated COSV10591
- Uncertain significance
- not provided
- Missense
- REVEL 0.36
- MetaLR 0.48
- MetaSVM 0.09
- CADD 25.00
- PolyPhen-2 0.67
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 9.3e-05)