P1243Q (p.Pro1243Gln) variant of MYO7A (Unconventional myosin-VIIa)
P1243Q (p.Pro1243Gln) in MYO7A (Unconventional myosin-VIIa) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Autosomal recessive nonsyndromic hearing loss 2; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data and structural context.
P1243Q (p.Pro1243Gln) variant details
- p.Pro1243Gln
- ExAC rs750358148
- TOPMed rs750358148
- gnomAD rs750358148
- Conflicting interpretations
- Autosomal recessive nonsyndromic hearing loss 2; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.77
- REVEL 0.77
- CADD 25.10
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Autosomal recessive nonsyndromic hearing loss 2; not specified)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the East Asian population (allele frequency 5.3e-05)
- Structural context available