A20V (p.Ala20Val) variant of DICER1 (Endoribonuclease Dicer)
A20V (p.Ala20Val) in DICER1 (Endoribonuclease Dicer) is a missense change. Clinical records from EBI and UniProt describe it as benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
A20V (p.Ala20Val) variant details
- p.Ala20Val
- rs147660793
- ClinGen CA332140
- ClinVar RCV000120633
- ClinVar RCV000203871
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.512
- REVEL 0.30
- CADD 27.80
- PolyPhen-2 0.98
- SIFT 0.01
- EBI: Benign
- UniProt: Benign
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available
- Cited in: DICER1-Related Tumor Predisposition. (PMID 24761742)
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)