P12S (p.Pro12Ser) variant of DYRK1A (Q13627)
P12S (p.Pro12Ser) in DYRK1A (Q13627) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data and structural context.
P12S (p.Pro12Ser) variant details
- p.Pro12Ser
- ExAC rs778892348
- gnomAD rs778892348
- Missense
- Variant Prioritization Score for Impact Estimate 0.608
- MetaLR 0.22
- MetaSVM -0.71
- CADD 23.40
- PolyPhen-2 0.33
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available