N1182K (p.Asn1182Lys) variant of MYO7A (Unconventional myosin-VIIa)
N1182K (p.Asn1182Lys) 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 Usher syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
N1182K (p.Asn1182Lys) variant details
- p.Asn1182Lys
- rs1555090294
- ClinGen CA381946913
- ClinVar RCV000505067
- ClinVar RCV000670174
- Likely pathogenic
- Usher syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.621
- REVEL 0.83
- CADD 24.00
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Likely pathogenic (Autosomal recessive nonsyndromic hearing loss 2)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 8.1e-06)
- Structural context available
- Cited in: Usher Syndrome Type I. (PMID 20301442)
- Cited in: Clinical utility gene card for: Usher syndrome. (PMID 21697857)