S1319C (p.Ser1319Cys) variant of MYO15A (Unconventional myosin-XV)
S1319C (p.Ser1319Cys) in MYO15A (Unconventional myosin-XV) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Ear malformation. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data and structural context.
S1319C (p.Ser1319Cys) variant details
- p.Ser1319Cys
- rs767354620
- ClinGen CA398590710
- ClinVar RCV001814531
- ExAC rs767354620
- Likely pathogenic
- Ear malformation
- Missense
- Variant Prioritization Score for Impact Estimate 0.864
- REVEL 0.93
- ESM-1b 1.00
- AlphaMissense 0.28
- CADD 27.70
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Ear malformation)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available