A1288P (p.Ala1288Pro) variant of MYO7A (Unconventional myosin-VIIa)
A1288P (p.Ala1288Pro) 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 Nonsyndromic genetic hearing loss. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
A1288P (p.Ala1288Pro) variant details
- p.Ala1288Pro
- rs749747871
- ClinGen CA6198221
- cosmic curated COSV68684
- ClinVar RCV001075168
- Likely pathogenic
- Nonsyndromic genetic hearing loss
- Missense
- Variant Prioritization Score for Impact Estimate 0.684
- REVEL 0.83
- CADD 26.90
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Nonsyndromic genetic hearing loss)
- EBI: Pathogenic (in USH1B)
- UniProt: Pathogenic (in USH1B)
- Most common in the Non-Finnish European population (allele frequency 0.00012)
- Structural context available
- Cited in: Evaluation of the myosin VIIA gene and visual function in patients with Usher syndrome type I. (PMID 10930322)
- Cited in: Twelve novel myosin VIIA mutations in 34 patients with Usher syndrome type I: confirmation of genetic heterogeneity. (PMID 10094549)