V64I (p.Val64Ile) variant of LRP2 (P98164)
V64I (p.Val64Ile) in LRP2 (P98164) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
V64I (p.Val64Ile) variant details
- p.Val64Ile
- rs766487772
- ClinGen CA1955956
- ClinVar RCV001997022
- ExAC rs766487772
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.204
- CADD 5.34
- PolyPhen-2 0.02
- SIFT 0.43
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available