L24V (p.Leu24Val) variant of MYH7 (Myosin-7)
L24V (p.Leu24Val) in MYH7 (Myosin-7) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. 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.
L24V (p.Leu24Val) variant details
- p.Leu24Val
- rs1085307708
- ClinGen CA389054021
- ClinVar RCV000489352
- TOPMed rs1085307708
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.296
- REVEL 0.23
- ESM-1b 0.00
- AlphaMissense 0.13
- MetaLR 0.49
- MetaSVM -0.21
- CADD 19.22
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available