R92H (p.Arg92His) variant of PICALM (Q13492)
R92H (p.Arg92His) in PICALM (Q13492) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data and structural context.
R92H (p.Arg92His) variant details
- p.Arg92His
- gnomAD rs1167033869
- Missense
- Variant Prioritization Score for Impact Estimate 0.735
- REVEL 0.65
- CADD 33.00
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available