S78Y (p.Ser78Tyr) variant of PICALM (Q13492)
S78Y (p.Ser78Tyr) in PICALM (Q13492) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data and structural context.
S78Y (p.Ser78Tyr) variant details
- p.Ser78Tyr
- gnomAD rs2095751876
- Missense
- Variant Prioritization Score for Impact Estimate 0.611
- REVEL 0.47
- CADD 28.30
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available