K131R (p.Lys131Arg) variant of STAT6 (P42226)
K131R (p.Lys131Arg) in STAT6 (P42226) 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, published literature, and structural context.
K131R (p.Lys131Arg) variant details
- p.Lys131Arg
- gnomAD 12-57098537-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.614
- CADD 9.58
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available