S185L (p.Ser185Leu) variant of PICALM (Q13492)
S185L (p.Ser185Leu) 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.
S185L (p.Ser185Leu) variant details
- p.Ser185Leu
- rs770007400
- gnomAD 11-85960773-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.734
- CADD 22.40
- Most common in the Latino/Admixed American population (allele frequency 0.00019)
- Structural context available
- Literature evidence available