I34V (p.Ile34Val) variant of PICALM (Q13492)
I34V (p.Ile34Val) in PICALM (Q13492) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
I34V (p.Ile34Val) variant details
- p.Ile34Val
- 1000Genomes rs558010093
- ExAC rs558010093
- gnomAD rs558010093
- Missense
- Variant Prioritization Score for Impact Estimate 0.26
- REVEL 0.04
- CADD 19.20
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the 1KG:KHV population (allele frequency 0.005)
- Structural context available