P60S (p.Pro60Ser) variant of PSEN2 (Presenilin-2)
P60S (p.Pro60Ser) in PSEN2 (Presenilin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
P60S (p.Pro60Ser) variant details
- p.Pro60Ser
- Ensembl rs2102672203
- Missense
- Variant Prioritization Score for Impact Estimate 0.351
- REVEL 0.46
- CADD 9.31
- PolyPhen-2 0.00
- SIFT 0.50
- Most common in the Non-Finnish European population (allele frequency 5.8e-05)
- Structural context available