P5S (p.Pro5Ser) variant of PSEN1 (Presenilin-1)
P5S (p.Pro5Ser) in PSEN1 (Presenilin-1) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
P5S (p.Pro5Ser) variant details
- p.Pro5Ser
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.565
- REVEL 0.46
- CADD 20.50
- PolyPhen-2 0.00
- SIFT 0.29
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 1.6e-05)
- Structural context available