H63N (p.His63Asn) variant of STAT6 (P42226)
H63N (p.His63Asn) in STAT6 (P42226) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
H63N (p.His63Asn) variant details
- p.His63Asn
- TOPMed rs1478597227
- gnomAD rs1478597227
- Missense
- Variant Prioritization Score for Impact Estimate 0.194
- REVEL 0.09
- CADD 19.20
- PolyPhen-2 0.01
- SIFT 0.07
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available