S29N (p.Ser29Asn) variant of MYO15A (Unconventional myosin-XV)
S29N (p.Ser29Asn) in MYO15A (Unconventional myosin-XV) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
S29N (p.Ser29Asn) variant details
- p.Ser29Asn
- TOPMed rs940000670
- gnomAD rs940000670
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.512
- REVEL 0.42
- ESM-1b 0.00
- AlphaMissense 0.85
- CADD 24.50
- PolyPhen-2 0.88
- SIFT 0.03
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available