P127L (p.Pro127Leu) variant of TYK2 (P29597)
P127L (p.Pro127Leu) in TYK2 (P29597) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data and structural context.
P127L (p.Pro127Leu) variant details
- p.Pro127Leu
- gnomAD rs1308616286
- Missense
- Variant Prioritization Score for Impact Estimate 0.16
- REVEL 0.04
- CADD 17.70
- PolyPhen-2 0.00
- SIFT 0.32
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available