P25R (p.Pro25Arg) variant of KMT2C (Q8NEZ4)
P25R (p.Pro25Arg) in KMT2C (Q8NEZ4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The record also includes variant effect predictions and population frequency data.
P25R (p.Pro25Arg) variant details
- p.Pro25Arg
- rs749087296
- ClinGen CA4581836
- ClinVar RCV002614637
- ExAC rs749087296
- Uncertain significance
- not provided
- Missense
- REVEL 0.36
- CADD 24.00
- PolyPhen-2 0.96
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 9.7e-05)