L16S (p.Leu16Ser) variant of MYO7A (Unconventional myosin-VIIa)
L16S (p.Leu16Ser) in MYO7A (Unconventional myosin-VIIa) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
L16S (p.Leu16Ser) variant details
- p.Leu16Ser
- rs1052030
- ClinGen CA132353
- cosmic curated COSV68684
- ClinVar RCV000036163
- Likely benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.385
- REVEL 0.23
- CADD 18.40
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Likely benign (not provided)
- EBI: Pathogenic (in dbSNP:rs1052030)
- UniProt: Pathogenic (in dbSNP:rs1052030)
- Most common in the HGDP:SAN population (allele frequency 1)
- Structural context available
- Cited in: Characterization of Usher syndrome type I gene mutations in an Usher syndrome patient population. (PMID 15660226)
- Cited in: Genetic Hearing Loss Overview. (PMID 20301607)