C60Y (p.Cys60Tyr) variant of CASR (P41180)
C60Y (p.Cys60Tyr) in CASR (P41180) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data and structural context.
C60Y (p.Cys60Tyr) variant details
- p.Cys60Tyr
- cosmic curated COSV10516
- ExAC rs772906030
- TOPMed rs772906030
- gnomAD rs772906030
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.801
- CADD 28.50
- PolyPhen-2 1.00
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available