Q15H (p.Gln15His) variant of PSEN1 (Presenilin-1)
Q15H (p.Gln15His) in PSEN1 (Presenilin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data and structural context.
Q15H (p.Gln15His) variant details
- p.Gln15His
- gnomAD rs1330528266
- Missense
- Variant Prioritization Score for Impact Estimate 0.64
- REVEL 0.57
- CADD 24.20
- PolyPhen-2 0.02
- SIFT 0.01
- Most common in the African/African-American population (allele frequency 2.8e-05)
- Structural context available