Q462P (p.Gln462Pro) variant of MYO7A (Unconventional myosin-VIIa)
Q462P (p.Gln462Pro) in MYO7A (Unconventional myosin-VIIa) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Usher syndrome; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data and structural context.
Q462P (p.Gln462Pro) variant details
- p.Gln462Pro
- rs1555069337
- ClinGen CA381935283
- ClinVar RCV003063715
- gnomAD rs1555069337
- Pathogenic/Likely pathogenic
- Usher syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.809
- REVEL 0.93
- CADD 26.70
- PolyPhen-2 0.95
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Usher syndrome; not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available