L51S (p.Leu51Ser) variant of SOS1 (Son of sevenless homolog 1)
L51S (p.Leu51Ser) in SOS1 (Son of sevenless homolog 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data and structural context.
L51S (p.Leu51Ser) variant details
- p.Leu51Ser
- gnomAD rs1458813036
- Missense
- Variant Prioritization Score for Impact Estimate 0.81
- REVEL 0.93
- CADD 27.10
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available