V49A (p.Val49Ala) variant of DICER1 (Endoribonuclease Dicer)
V49A (p.Val49Ala) 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 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
V49A (p.Val49Ala) variant details
- p.Val49Ala
- rs1060503624
- ClinGen CA16614569
- ClinVar RCV000456605
- ClinVar RCV005540083
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.438
- REVEL 0.27
- CADD 28.90
- PolyPhen-2 0.74
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-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)