S23G (p.Ser23Gly) variant of PSEN1 (Presenilin-1)
S23G (p.Ser23Gly) in PSEN1 (Presenilin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
S23G (p.Ser23Gly) variant details
- p.Ser23Gly
- gnomAD 14-73148086-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.505
- REVEL 0.51
- CADD 22.30
- PolyPhen-2 0.00
- SIFT 0.34
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available
- Literature evidence available