S43P (p.Ser43Pro) variant of PSEN1 (Presenilin-1)
S43P (p.Ser43Pro) in PSEN1 (Presenilin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
S43P (p.Ser43Pro) variant details
- p.Ser43Pro
- gnomAD 14-73160042-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.385
- CADD 7.44
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available
- Literature evidence available