S185R (p.Ser185Arg) variant of PICALM (Q13492)
S185R (p.Ser185Arg) 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, published literature, and structural context.
S185R (p.Ser185Arg) variant details
- p.Ser185Arg
- gnomAD 11-85960747-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.608
- CADD 22.30
- Population evidence available
- Structural context available
- Literature evidence available