S2Y (p.Ser2Tyr) variant of PICALM (Q13492)
S2Y (p.Ser2Tyr) in PICALM (Q13492) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
S2Y (p.Ser2Tyr) variant details
- p.Ser2Tyr
- TOPMed rs1458101059
- Missense
- Variant Prioritization Score for Impact Estimate 0.493
- REVEL 0.39
- CADD 25.00
- PolyPhen-2 0.43
- SIFT 0.00
- Population evidence available
- Structural context available