L38F (p.Leu38Phe) variant of SOS1 (Son of sevenless homolog 1)
L38F (p.Leu38Phe) in SOS1 (Son of sevenless homolog 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data and structural context.
L38F (p.Leu38Phe) variant details
- p.Leu38Phe
- cosmic curated COSV67675
- gnomAD rs1242664084
- Missense
- Variant Prioritization Score for Impact Estimate 0.718
- REVEL 0.68
- CADD 24.40
- PolyPhen-2 1.00
- SIFT 0.05
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available