Q25R (p.Gln25Arg) variant of MYL2 (P10916)
Q25R (p.Gln25Arg) in MYL2 (P10916) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and structural context.
Q25R (p.Gln25Arg) variant details
- p.Gln25Arg
- rs1469796561
- NCI-TCGA Cosmic COSV9996
- cosmic curated COSV99960
- gnomAD rs1469796561
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.572
- REVEL 0.56
- CADD 24.20
- PolyPhen-2 0.02
- SIFT 0.02
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available