A23V (p.Ala23Val) variant of PSEN2 (Presenilin-2)
A23V (p.Ala23Val) in PSEN2 (Presenilin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
A23V (p.Ala23Val) variant details
- p.Ala23Val
- gnomAD 1-226881975-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.582
- REVEL 0.51
- CADD 17.10
- PolyPhen-2 0.04
- SIFT 0.13
- Most common in the HGDP:BIAKA population (allele frequency 0.93)
- Structural context available
- Literature evidence available