Q29H (p.Gln29His) variant of PSEN1 (Presenilin-1)
Q29H (p.Gln29His) in PSEN1 (Presenilin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data and structural context.
Q29H (p.Gln29His) variant details
- p.Gln29His
- cosmic curated COSV99997
- ExAC rs747750345
- gnomAD rs747750345
- Missense
- Variant Prioritization Score for Impact Estimate 0.629
- REVEL 0.49
- CADD 34.00
- PolyPhen-2 0.02
- SIFT 0.07
- Most common in the 1KG:IBS population (allele frequency 0.017)
- Structural context available