F40S (p.Phe40Ser) variant of MYO15A (Unconventional myosin-XV)
F40S (p.Phe40Ser) 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 0.58 / 1. The record also includes population frequency data and structural context.
F40S (p.Phe40Ser) variant details
- p.Phe40Ser
- ExAC rs763010171
- gnomAD rs763010171
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.584
- REVEL 0.65
- ESM-1b 0.00
- AlphaMissense 0.99
- CADD 25.00
- PolyPhen-2 0.92
- SIFT 0.00
- 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