Q75R (p.Gln75Arg) variant of SOS1 (Son of sevenless homolog 1)
Q75R (p.Gln75Arg) 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 RASopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes structural context.
Q75R (p.Gln75Arg) variant details
- p.Gln75Arg
- rs786205522
- ClinGen CA346374046
- ClinVar RCV002791766
- Uncertain significance
- RASopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.527
- AlphaMissense 0.17
- MetaLR 0.58
- MetaSVM 0.20
- PolyPhen-2 0.53
- SIFT 0.03
- EVE 0.40
- ClinVar: Uncertain significance (RASopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available