S8T (p.Ser8Thr) variant of KMT2C (Q8NEZ4)
S8T (p.Ser8Thr) 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.
S8T (p.Ser8Thr) variant details
- p.Ser8Thr
- rs1398617617
- ClinGen CA370104672
- ClinVar RCV002462562
- TOPMed rs1398617617
- Uncertain significance
- not provided
- Missense
- REVEL 0.32
- CADD 17.80
- PolyPhen-2 0.64
- SIFT 1.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 7.3e-05)