V74I (p.Val74Ile) variant of SOS1 (Son of sevenless homolog 1)
V74I (p.Val74Ile) in SOS1 (Son of sevenless homolog 1) 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 0.58 / 1. The record also includes structural context.
V74I (p.Val74Ile) variant details
- p.Val74Ile
- rs1292587800
- ClinGen CA346374056
- ClinVar RCV000681438
- gnomAD rs1292587800
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.575
- AlphaMissense 0.22
- MetaLR 0.73
- MetaSVM 0.45
- PolyPhen-2 1.00
- SIFT 0.07
- EVE 0.24
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available