E13K (p.Glu13Lys) variant of SOS1 (Son of sevenless homolog 1)
E13K (p.Glu13Lys) in SOS1 (Son of sevenless homolog 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
E13K (p.Glu13Lys) variant details
- p.Glu13Lys
- cosmic curated COSV67676
- Missense
- Variant Prioritization Score for Impact Estimate 0.467
- REVEL 0.37
- CADD 23.40
- PolyPhen-2 0.02
- SIFT 0.12
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available