S54R (p.Ser54Arg) variant of USH1C (Harmonin)
S54R (p.Ser54Arg) in USH1C (Harmonin) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, experimental measurements, and structural context.
S54R (p.Ser54Arg) variant details
- p.Ser54Arg
- ExAC rs767509662
- TOPMed rs767509662
- gnomAD rs767509662
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.188
- REVEL 0.07
- CADD 22.90
- PolyPhen-2 0.01
- SIFT 0.02
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available
- USH1C PDZ domain domainome 1.0: score -0.626