S22L (p.Ser22Leu) variant of DICER1 (Endoribonuclease Dicer)
S22L (p.Ser22Leu) in DICER1 (Endoribonuclease Dicer) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
S22L (p.Ser22Leu) variant details
- p.Ser22Leu
- rs1060503626
- ClinGen CA16614322
- cosmic curated COSV58616
- ClinVar RCV000461365
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.552
- REVEL 0.36
- CADD 28.90
- PolyPhen-2 0.98
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 3.7e-05)
- Structural context available
- Cited in: DICER1-Related Tumor Predisposition. (PMID 24761742)