S144N (p.Ser144Asn) variant of STAT1 (P42224)
S144N (p.Ser144Asn) in STAT1 (P42224) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
S144N (p.Ser144Asn) variant details
- p.Ser144Asn
- gnomAD rs1472778655
- Missense
- Variant Prioritization Score for Impact Estimate 0.255
- REVEL 0.07
- CADD 9.13
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available