H32D (p.His32Asp) variant of PICALM (Q13492)
H32D (p.His32Asp) in PICALM (Q13492) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
H32D (p.His32Asp) variant details
- p.His32Asp
- ExAC rs773948451
- gnomAD rs773948451
- Missense
- Variant Prioritization Score for Impact Estimate 0.507
- REVEL 0.35
- CADD 24.90
- PolyPhen-2 0.02
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available