C48Y (p.Cys48Tyr) variant of PICALM (Q13492)
C48Y (p.Cys48Tyr) in PICALM (Q13492) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
C48Y (p.Cys48Tyr) variant details
- p.Cys48Tyr
- ExAC rs762683708
- gnomAD rs762683708
- Missense
- Variant Prioritization Score for Impact Estimate 0.53
- REVEL 0.37
- CADD 24.00
- PolyPhen-2 0.36
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available