R115H (p.Arg115His) variant of STAT6 (P42226)
R115H (p.Arg115His) in STAT6 (P42226) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data, published literature, and structural context.
R115H (p.Arg115His) variant details
- p.Arg115His
- rs766600386
- ClinGen CA6642039
- cosmic curated COSV55672
- ClinVar RCV004465534
- Likely benign
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.116
- REVEL 0.13
- CADD 4.25
- PolyPhen-2 0.00
- SIFT 0.66
- ClinVar: Likely benign (Inborn genetic diseases)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)