H38Q (p.His38Gln) variant of PSEN1 (Presenilin-1)
H38Q (p.His38Gln) in PSEN1 (Presenilin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
H38Q (p.His38Gln) variant details
- p.His38Gln
- TOPMed rs938687393
- gnomAD rs938687393
- Missense
- Variant Prioritization Score for Impact Estimate 0.338
- REVEL 0.54
- CADD 0.02
- PolyPhen-2 0.00
- SIFT 0.69
- Most common in the Finnish in Finland (FIN) population (allele frequency 3.8e-05)
- Structural context available