P1243L (p.Pro1243Leu) variant of MYO7A (Unconventional myosin-VIIa)
P1243L (p.Pro1243Leu) in MYO7A (Unconventional myosin-VIIa) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Usher syndrome type 1B; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data and structural context.
P1243L (p.Pro1243Leu) variant details
- p.Pro1243Leu
- rs750358148
- ClinGen CA6198178
- ClinVar RCV000482515
- ClinVar RCV000504890
- Pathogenic/Likely pathogenic
- Usher syndrome type 1B; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.699
- REVEL 0.65
- CADD 24.10
- PolyPhen-2 1.00
- SIFT 0.06
- ClinVar: Pathogenic/Likely pathogenic (Usher syndrome type 1B; not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the African/African-American population (allele frequency 3.1e-05)
- Structural context available