G55S (p.Gly55Ser) variant of PADI4 (Q9UM07)
G55S (p.Gly55Ser) in PADI4 (Q9UM07) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign; association in the context of Rheumatoid arthritis; Abnormal pulmonary interstitial morphology; PADI4-related. The available variant effect predictions contribute to a CATVariant prioritization score of 0.05 / 1. The record also includes population frequency data, published literature, and structural context.
G55S (p.Gly55Ser) variant details
- p.Gly55Ser
- rs11203366
- ClinGen CA640362
- cosmic curated COSV64923
- ClinVar RCV001249179
- Benign; association
- Rheumatoid arthritis; Abnormal pulmonary interstitial morphology; PADI4-related
- Missense
- Variant Prioritization Score for Impact Estimate 0.0477
- REVEL 0.03
- CADD 0.00
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Benign; association (Rheumatoid arthritis; Abnormal pulmonary interstitial morphology)
- EBI: Benign
- UniProt: Benign
- Most common in the HGDP:BERGAMOITALIAN population (allele frequency 0.77)
- Structural context available
- Cited in: Molecular characterization of peptidylarginine deiminase in HL-60 cells induced by retinoic acid and… (PMID 10488123)
- Cited in: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID 15489334)