K39N (p.Lys39Asn) variant of MYBPC3 (Myosin-binding protein C, cardiac-type)
K39N (p.Lys39Asn) in MYBPC3 (Myosin-binding protein C, cardiac-type) 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 0.29 / 1. The record also includes population frequency data and structural context.
K39N (p.Lys39Asn) variant details
- p.Lys39Asn
- rs747965077
- NCI-TCGA Cosmic COSV9990
- cosmic curated COSV99909
- ExAC rs747965077
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.286
- REVEL 0.27
- ESM-1b 0.00
- AlphaMissense 0.49
- CADD 23.50
- PolyPhen-2 0.78
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the HGDP:BEDOUIN population (allele frequency 0.012)
- Structural context available