L21I (p.Leu21Ile) variant of PRNP (Major prion protein)
L21I (p.Leu21Ile) in PRNP (Major prion protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
L21I (p.Leu21Ile) variant details
- p.Leu21Ile
- ExAC rs776137568
- gnomAD rs776137568
- Missense
- Variant Prioritization Score for Impact Estimate 0.446
- REVEL 0.44
- CADD 23.00
- PolyPhen-2 0.73
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 7.2e-06)
- Structural context available