L1935P (p.Leu1935Pro) variant of MYO7A (Unconventional myosin-VIIa)
L1935P (p.Leu1935Pro) 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 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
L1935P (p.Leu1935Pro) variant details
- p.Leu1935Pro
- rs397516323
- ClinGen CA278691
- ClinVar RCV000036203
- ClinVar RCV000675068
- Likely pathogenic
- Usher syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.837
- REVEL 0.96
- CADD 29.80
- PolyPhen-2 0.93
- SIFT 0.01
- ClinVar: Likely pathogenic (Usher syndrome)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Structural context available
- Cited in: Genetic Hearing Loss Overview. (PMID 20301607)
- Cited in: Usher Syndrome Type I. (PMID 20301442)