S185C (p.Ser185Cys) variant of PICALM (Q13492)
S185C (p.Ser185Cys) in PICALM (Q13492) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
S185C (p.Ser185Cys) variant details
- p.Ser185Cys
- gnomAD 11-85960704-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.732
- CADD 22.00
- Population evidence available
- Structural context available
- Literature evidence available