V15I (p.Val15Ile) variant of DYRK1A (Q13627)
V15I (p.Val15Ile) in DYRK1A (Q13627) 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 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
V15I (p.Val15Ile) variant details
- p.Val15Ile
- rs780200883
- ClinGen CA10023699
- ClinVar RCV001205973
- ClinVar RCV005550169
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.646
- MetaLR 0.32
- MetaSVM -0.59
- CADD 26.10
- PolyPhen-2 0.89
- SIFT 0.08
- EBI: Benign
- UniProt: Benign
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Cited in: DYRK1A Syndrome. (PMID 26677511)
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)