P30L (p.Pro30Leu) variant of MYH7 (Myosin-7)
P30L (p.Pro30Leu) in MYH7 (Myosin-7) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hypertrophic cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
P30L (p.Pro30Leu) variant details
- p.Pro30Leu
- rs1595091475
- ClinGen CA389053958
- ClinVar RCV000794189
- Ensembl rs1595091475
- Uncertain significance
- Hypertrophic cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.529
- REVEL 0.38
- CADD 23.70
- PolyPhen-2 0.00
- SIFT 0.03
- ClinVar: Uncertain significance (Hypertrophic cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available