S617P (p.Ser617Pro) variant of MYO7A (Unconventional myosin-VIIa)
S617P (p.Ser617Pro) 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 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
S617P (p.Ser617Pro) variant details
- p.Ser617Pro
- rs782063761
- ClinGen CA6197628
- ClinVar RCV000504967
- ClinVar RCV000670176
- Likely pathogenic
- Nonsyndromic genetic hearing loss
- Missense
- Variant Prioritization Score for Impact Estimate 0.811
- REVEL 0.92
- CADD 29.20
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Likely pathogenic (Nonsyndromic genetic hearing loss)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the South Asian population (allele frequency 0.00042)
- Structural context available
- Cited in: Genetic Hearing Loss Overview. (PMID 20301607)
- Cited in: Usher Syndrome Type I. (PMID 20301442)