V183I (p.Val183Ile) variant of PICALM (Q13492)
V183I (p.Val183Ile) 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 0.36 / 1. The record also includes population frequency data and structural context.
V183I (p.Val183Ile) variant details
- p.Val183Ile
- rs1273658262
- ClinGen CA381990358
- cosmic curated COSV62674
- ClinVar RCV004503513
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.364
- REVEL 0.07
- CADD 24.40
- PolyPhen-2 0.42
- SIFT 0.03
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.6e-05)
- Structural context available