S185A (p.Ser185Ala) variant of PICALM (Q13492)
S185A (p.Ser185Ala) in PICALM (Q13492) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
S185A (p.Ser185Ala) variant details
- p.Ser185Ala
- gnomAD 11-85960774-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.599
- CADD 21.80
- Population evidence available
- Structural context available
- Literature evidence available