V62I (p.Val62Ile) variant of DICER1 (Endoribonuclease Dicer)
V62I (p.Val62Ile) in DICER1 (Endoribonuclease Dicer) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
V62I (p.Val62Ile) variant details
- p.Val62Ile
- rs746671039
- ClinGen CA7331717
- cosmic curated COSV58621
- ClinVar RCV000654380
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.385
- REVEL 0.13
- CADD 22.30
- PolyPhen-2 0.15
- SIFT 0.17
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 7.2e-05)
- 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)