S127L (p.Ser127Leu) variant of STAT1 (P42224)
S127L (p.Ser127Leu) in STAT1 (P42224) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficien. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
S127L (p.Ser127Leu) variant details
- p.Ser127Leu
- rs768483703
- ClinGen CA2030251
- ClinVar RCV000706821
- ClinVar RCV004735761
- Uncertain significance
- Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficien
- Missense
- Variant Prioritization Score for Impact Estimate 0.208
- REVEL 0.12
- CADD 13.90
- PolyPhen-2 0.00
- SIFT 0.36
- ClinVar: Uncertain significance (Mendelian susceptibility to mycobacterial diseases due to partia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available