S171L (p.Ser171Leu) variant of TYK2 (P29597)
S171L (p.Ser171Leu) in TYK2 (P29597) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
S171L (p.Ser171Leu) variant details
- p.Ser171Leu
- cosmic curated COSV10959
- ExAC rs756721201
- TOPMed rs756721201
- gnomAD rs756721201
- Missense
- Variant Prioritization Score for Impact Estimate 0.336
- REVEL 0.13
- CADD 19.60
- PolyPhen-2 0.43
- SIFT 0.07
- Most common in the REMAINING population (allele frequency 9.9e-05)
- Structural context available