Q18H (p.Gln18His) variant of MYO7A (Unconventional myosin-VIIa)
Q18H (p.Gln18His) in MYO7A (Unconventional myosin-VIIa) 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 0.33 / 1. The record also includes population frequency data and structural context.
Q18H (p.Gln18His) variant details
- p.Gln18His
- rs371849195
- ClinGen CA6197013
- ClinVar RCV000658025
- ClinVar RCV001835061
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.33
- REVEL 0.25
- CADD 19.10
- PolyPhen-2 0.00
- SIFT 0.23
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 7.4e-05)
- Structural context available