C31S (p.Cys31Ser) variant of PSEN2 (Presenilin-2)
C31S (p.Cys31Ser) in PSEN2 (Presenilin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
C31S (p.Cys31Ser) variant details
- p.Cys31Ser
- gnomAD 1-226881999-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.405
- REVEL 0.44
- CADD 13.90
- PolyPhen-2 0.01
- SIFT 0.76
- Most common in the Non-Finnish European population (allele frequency 3.4e-06)
- Structural context available
- Literature evidence available