R54C (p.Arg54Cys) variant of MYO15A (Unconventional myosin-XV)
R54C (p.Arg54Cys) in MYO15A (Unconventional myosin-XV) is a missense change. Clinical records from ClinVar, EBI, 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 0.66 / 1. The record also includes population frequency data and structural context.
R54C (p.Arg54Cys) variant details
- p.Arg54Cys
- rs1381422765
- ClinGen CA398589561
- cosmic curated COSV52765
- ClinVar RCV002287031
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.663
- REVEL 0.63
- ESM-1b 1.00
- AlphaMissense 0.80
- CADD 25.10
- PolyPhen-2 0.87
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available