L143V (p.Leu143Val) variant of TYK2 (P29597)
L143V (p.Leu143Val) in TYK2 (P29597) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
L143V (p.Leu143Val) variant details
- p.Leu143Val
- rs1296974908
- gnomAD 19-10350915-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.135
- CADD 1.10
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available