M30V (p.Met30Val) variant of DYRK1A (Q13627)
M30V (p.Met30Val) 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 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
M30V (p.Met30Val) variant details
- p.Met30Val
- rs762466544
- ClinGen CA10023706
- ClinVar RCV000931147
- ExAC rs762466544
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.363
- AlphaMissense 0.11
- MetaLR 0.19
- MetaSVM -0.91
- PolyPhen-2 0.45
- SIFT 0.00
- MutPred 0.25
- EBI: Benign
- UniProt: Benign
- Population evidence available
- Structural context available
- Cited in: DYRK1A Syndrome. (PMID 26677511)