L1027P (p.Leu1027Pro) variant of MYO7A (Unconventional myosin-VIIa)
L1027P (p.Leu1027Pro) 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 not provided; Usher syndrome type 1B. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data and structural context.
L1027P (p.Leu1027Pro) variant details
- p.Leu1027Pro
- rs2135494876
- ClinGen CA381944263
- ClinVar RCV003112221
- Ensembl rs2135494876
- Likely pathogenic
- not provided; Usher syndrome type 1B
- Missense
- Variant Prioritization Score for Impact Estimate 0.84
- REVEL 0.97
- CADD 29.70
- ClinVar: Likely pathogenic (not provided; Usher syndrome type 1B)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available