E1327K (p.Glu1327Lys) variant of MYO7A (Unconventional myosin-VIIa)
E1327K (p.Glu1327Lys) 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; Rare genetic deafness; Autosomal recessive nonsyndromic hearing. 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.
E1327K (p.Glu1327Lys) variant details
- p.Glu1327Lys
- rs373169422
- ClinGen CA180657
- ClinVar RCV000154330
- ClinVar RCV001826829
- Pathogenic/Likely pathogenic
- Usher syndrome; Rare genetic deafness; Autosomal recessive nonsyndromic hearing
- Missense
- Variant Prioritization Score for Impact Estimate 0.827
- REVEL 0.89
- CADD 25.80
- PolyPhen-2 0.15
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Usher syndrome; Rare genetic deafness; Autosomal recessive nonsy)
- EBI: Pathogenic (in USH1B)
- UniProt: Pathogenic (in USH1B)
- Most common in the REMAINING population (allele frequency 6.6e-05)
- Structural context available
- Cited in: Mutations in myosin VIIA (MYO7A) and usherin (USH2A) in Spanish patients with Usher syndrome types I and II… (PMID 12112664)
- Cited in: Genetic Hearing Loss Overview. (PMID 20301607)