E1170K (p.Glu1170Lys) variant of MYO7A (Unconventional myosin-VIIa)
E1170K (p.Glu1170Lys) in MYO7A (Unconventional myosin-VIIa) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Retinal dystrophy; not provided; Autosomal recessive nonsyndromic hearing loss 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes population frequency data, published literature, and structural context.
E1170K (p.Glu1170Lys) variant details
- p.Glu1170Lys
- rs111033214
- ClinGen CA278649
- cosmic curated COSV68684
- ClinVar RCV000036112
- Pathogenic
- Retinal dystrophy; not provided; Autosomal recessive nonsyndromic hearing loss 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.904
- REVEL 0.96
- CADD 31.00
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Pathogenic (Retinal dystrophy; not provided; Autosomal recessive nonsyndromi)
- EBI: Pathogenic (in USH1B)
- UniProt: Pathogenic (in USH1B)
- Most common in the Latino/Admixed American population (allele frequency 0.00013)
- Structural context available
- Cited in: Identification of three novel mutations in the MYO7A gene. (PMID 10447383)
- Cited in: Mutations in myosin VIIA (MYO7A) and usherin (USH2A) in Spanish patients with Usher syndrome types I and II… (PMID 12112664)