A24V (p.Ala24Val) variant of KMT2C (Q8NEZ4)
A24V (p.Ala24Val) in KMT2C (Q8NEZ4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of not provided. The record also includes variant effect predictions and population frequency data.
A24V (p.Ala24Val) variant details
- p.Ala24Val
- rs768439100
- ClinGen CA4581837
- cosmic curated COSV10586
- ClinVar RCV002766629
- Likely benign
- not provided
- Missense
- REVEL 0.32
- CADD 24.50
- PolyPhen-2 0.85
- SIFT 0.00
- ClinVar: Likely benign (not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the East Asian population (allele frequency 0.00059)