S185F (p.Ser185Phe) variant of PICALM (Q13492)
S185F (p.Ser185Phe) 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.
S185F (p.Ser185Phe) variant details
- p.Ser185Phe
- gnomAD 11-85960764-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.731
- CADD 22.00
- Most common in the Non-Finnish European population (allele frequency 1.1e-06)
- Structural context available
- Literature evidence available