M1I (p.Met1Ile) variant of MYO7A (Unconventional myosin-VIIa)
M1I (p.Met1Ile) 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 not provided; Autosomal recessive nonsyndromic hearing loss 2; Autosomal dominan. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
M1I (p.Met1Ile) variant details
- p.Met1Ile
- rs782787126
- ClinGen CA6196971
- ClinVar RCV000668632
- ClinVar RCV001203639
- Pathogenic/Likely pathogenic
- not provided; Autosomal recessive nonsyndromic hearing loss 2; Autosomal dominan
- Missense
- Variant Prioritization Score for Impact Estimate 0.485
- MetaLR 0.53
- MetaSVM 0.11
- PolyPhen-2 0.10
- SIFT 0.01
- MutPred 0.93
- ClinVar: Pathogenic/Likely pathogenic (not provided; Autosomal recessive nonsyndromic hearing loss 2; A)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Cited in: Genetic Hearing Loss Overview. (PMID 20301607)
- Cited in: Usher Syndrome Type I. (PMID 20301442)