K29T (p.Lys29Thr) variant of SOS1 (Son of sevenless homolog 1)
K29T (p.Lys29Thr) 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 0.56 / 1. The record also includes population frequency data and structural context.
K29T (p.Lys29Thr) variant details
- p.Lys29Thr
- rs2465606172
- ClinGen CA346374541
- ClinVar RCV003655560
- Uncertain significance
- RASopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.563
- REVEL 0.60
- CADD 27.60
- PolyPhen-2 0.18
- SIFT 0.01
- ClinVar: Uncertain significance (RASopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available