Q51P (p.Gln51Pro) variant of MYO7A (Unconventional myosin-VIIa)
Q51P (p.Gln51Pro) 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 Hearing impairment. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
Q51P (p.Gln51Pro) variant details
- p.Gln51Pro
- rs375662903
- ClinGen CA6197061
- ClinVar RCV001375135
- ESP rs375662903
- Uncertain significance
- Hearing impairment
- Missense
- Variant Prioritization Score for Impact Estimate 0.506
- REVEL 0.47
- CADD 27.00
- PolyPhen-2 0.85
- SIFT 0.01
- ClinVar: Uncertain significance (Hearing impairment)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available