H83R (p.His83Arg) variant of PICALM (Q13492)
H83R (p.His83Arg) in PICALM (Q13492) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data and structural context.
H83R (p.His83Arg) variant details
- p.His83Arg
- gnomAD rs1316349561
- Missense
- Variant Prioritization Score for Impact Estimate 0.746
- REVEL 0.82
- CADD 26.30
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available