S40R (p.Ser40Arg) variant of TIGIT (Q495A1)
S40R (p.Ser40Arg) in TIGIT (Q495A1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
S40R (p.Ser40Arg) variant details
- p.Ser40Arg
- rs2078437128
- gnomAD 3-114293980-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.145
- CADD 5.17
- SIFT 0.01
- Most common in the South Asian population (allele frequency 1.4e-05)
- Structural context available
- Literature evidence available