D66D (p.Asp66Asp) variant of PSEN1 (Presenilin-1)
D66D (p.Asp66Asp) in PSEN1 (Presenilin-1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
D66D (p.Asp66Asp) variant details
- p.Asp66Asp
- gnomAD 14-73170907-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.14
- CADD 8.34
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available