Y38N (p.Tyr38Asn) variant of PRNP (Major prion protein)
Y38N (p.Tyr38Asn) in PRNP (Major prion protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
Y38N (p.Tyr38Asn) variant details
- p.Tyr38Asn
- gnomAD 20-4699332-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.568
- REVEL 0.59
- CADD 23.70
- PolyPhen-2 0.91
- SIFT 0.36
- Population evidence available
- Structural context available
- Literature evidence available