D29N (p.Asp29Asn) variant of MYH11 (Myosin-11)
D29N (p.Asp29Asn) in MYH11 (Myosin-11) 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 0.68 / 1. The record also includes population frequency data and structural context.
D29N (p.Asp29Asn) variant details
- p.Asp29Asn
- rs998492066
- NCI-TCGA Cosmic COSV5555
- cosmic curated COSV55555
- Ensembl rs998492066
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.677
- REVEL 0.60
- CADD 26.00
- PolyPhen-2 0.88
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available