K54N (p.Lys54Asn) variant of MYH11 (Myosin-11)
K54N (p.Lys54Asn) in MYH11 (Myosin-11) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
K54N (p.Lys54Asn) variant details
- p.Lys54Asn
- rs138407222
- NCI-TCGA Cosmic COSV5554
- cosmic curated COSV55547
- ESP rs138407222
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.301
- REVEL 0.33
- CADD 15.50
- PolyPhen-2 0.14
- SIFT 0.19
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available