L24P (p.Leu24Pro) variant of MYH6 (Myosin-6)
L24P (p.Leu24Pro) in MYH6 (Myosin-6) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype; not provided; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data, published literature, and structural context.
L24P (p.Leu24Pro) variant details
- p.Leu24Pro
- rs1320990570
- ClinGen CA389032127
- ClinVar RCV001174568
- ClinVar RCV001294383
- Uncertain significance
- Cardiovascular phenotype; not provided; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.736
- REVEL 0.80
- CADD 27.00
- PolyPhen-2 0.70
- SIFT 0.02
- ClinVar: Uncertain significance (Cardiovascular phenotype; not provided; not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 5e-05)
- Structural context available
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)
- Cited in: Nonsyndromic Hypertrophic Cardiomyopathy Overview. (PMID 20301725)