S2L (p.Ser2Leu) variant of SMAD2 (SMAD family member 2)
S2L (p.Ser2Leu) in SMAD2 (SMAD family member 2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data and structural context.
S2L (p.Ser2Leu) variant details
- p.Ser2Leu
- rs2033454515
- ClinGen CA402503739
- cosmic curated COSV10005
- ClinVar RCV003666407
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.582
- REVEL 0.48
- CADD 25.80
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available