H97Y (p.His97Tyr) variant of MYLK (Q15746)
H97Y (p.His97Tyr) in MYLK (Q15746) 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 0.05 / 1. The record also includes population frequency data and structural context.
H97Y (p.His97Tyr) variant details
- p.His97Tyr
- rs111422191
- NCI-TCGA Cosmic COSV6062
- cosmic curated COSV60622
- ExAC rs111422191
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.0481
- REVEL 0.04
- CADD 1.57
- PolyPhen-2 0.15
- SIFT 0.13
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available