K129N (p.Lys129Asn) variant of STAT6 (P42226)
K129N (p.Lys129Asn) in STAT6 (P42226) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
K129N (p.Lys129Asn) variant details
- p.Lys129Asn
- gnomAD rs1263111468
- Missense
- Variant Prioritization Score for Impact Estimate 0.261
- REVEL 0.12
- CADD 21.50
- PolyPhen-2 0.07
- SIFT 0.08
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available