I80V (p.Ile80Val) variant of PICALM (Q13492)
I80V (p.Ile80Val) in PICALM (Q13492) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
I80V (p.Ile80Val) variant details
- p.Ile80Val
- rs754371476
- ClinGen CA6216181
- ClinVar RCV004503511
- ExAC rs754371476
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.294
- REVEL 0.08
- CADD 21.00
- PolyPhen-2 0.04
- SIFT 0.31
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-06)
- Structural context available