R92L (p.Arg92Leu) variant of PICALM (Q13492)
R92L (p.Arg92Leu) in PICALM (Q13492) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data and structural context.
R92L (p.Arg92Leu) variant details
- p.Arg92Leu
- gnomAD rs1167033869
- Missense
- Variant Prioritization Score for Impact Estimate 0.724
- REVEL 0.64
- CADD 33.00
- PolyPhen-2 0.91
- SIFT 0.00
- Most common in the Latino/Admixed American population (allele frequency 2.3e-05)
- Structural context available