E450V (p.Glu450Val) variant of MYO7A (Unconventional myosin-VIIa)
E450V (p.Glu450Val) in MYO7A (Unconventional myosin-VIIa) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Autosomal dominant nonsyndromic hearing loss 11; Autosomal recessive nonsyndromi. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
E450V (p.Glu450Val) variant details
- p.Glu450Val
- rs1555069238
- ClinGen CA381935201
- ClinVar RCV000505567
- ClinVar RCV001229028
- Likely pathogenic
- Autosomal dominant nonsyndromic hearing loss 11; Autosomal recessive nonsyndromi
- Missense
- Variant Prioritization Score for Impact Estimate 0.834
- REVEL 0.96
- CADD 29.20
- PolyPhen-2 0.96
- SIFT 0.00
- ClinVar: Likely pathogenic (Autosomal dominant nonsyndromic hearing loss 11; Autosomal reces)
- EBI: Likely pathogenic (in USH1B)
- UniProt: Likely pathogenic (in USH1B)
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available
- Cited in: Genetic Hearing Loss Overview. (PMID 20301607)
- Cited in: Usher Syndrome Type I. (PMID 20301442)