V26N (p.Val26Asn) variant of PSEN1 (Presenilin-1)
V26N (p.Val26Asn) in PSEN1 (Presenilin-1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
V26N (p.Val26Asn) variant details
- p.Val26Asn
- gnomAD 14-73148094-T-TAA
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.603
- CADD 25.80
- Population evidence available
- Structural context available
- Literature evidence available