S49R (p.Ser49Arg) variant of PSEN2 (Presenilin-2)
S49R (p.Ser49Arg) in PSEN2 (Presenilin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
S49R (p.Ser49Arg) variant details
- p.Ser49Arg
- gnomAD 1-226883710-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.469
- REVEL 0.46
- CADD 17.50
- PolyPhen-2 0.00
- SIFT 0.32
- Most common in the HGDP:BIAKA population (allele frequency 0.93)
- Structural context available
- Literature evidence available