Q75L (p.Gln75Leu) variant of SOS1 (Son of sevenless homolog 1)
Q75L (p.Gln75Leu) in SOS1 (Son of sevenless homolog 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes structural context.
Q75L (p.Gln75Leu) variant details
- p.Gln75Leu
- rs786205522
- ClinGen CA236037
- ClinVar RCV000171289
- Ensembl rs786205522
- Likely pathogenic
- not provided
- 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: Likely pathogenic (not provided)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available