E4A (p.Glu4Ala) variant of MYO15A (Unconventional myosin-XV)
E4A (p.Glu4Ala) in MYO15A (Unconventional myosin-XV) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
E4A (p.Glu4Ala) variant details
- p.Glu4Ala
- gnomAD rs1404154647
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.366
- REVEL 0.33
- ESM-1b 0.00
- AlphaMissense 0.35
- CADD 23.20
- PolyPhen-2 0.11
- SIFT 0.01
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available