G37A (p.Gly37Ala) variant of PSEN2 (Presenilin-2)
G37A (p.Gly37Ala) in PSEN2 (Presenilin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
G37A (p.Gly37Ala) variant details
- p.Gly37Ala
- gnomAD 1-226882017-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.357
- REVEL 0.32
- CADD 3.85
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the East Asian population (allele frequency 2.8e-05)
- Structural context available
- Literature evidence available