Y11H (p.Tyr11His) variant of DMD (Dystrophin)
Y11H (p.Tyr11His) in DMD (Dystrophin) 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 0.51 / 1. The record also includes population frequency data and structural context.
Y11H (p.Tyr11His) variant details
- p.Tyr11His
- NCI-TCGA Cosmic COSV5586
- cosmic curated COSV55863
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.515
- CADD 18.40
- SIFT 1.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Finnish in Finland (FIN) population (allele frequency 3.8e-05)
- Structural context available