A622T (p.Ala622Thr) variant of RAD21 (O60216)
A622T (p.Ala622Thr) in RAD21 (O60216) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Mungan syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
A622T (p.Ala622Thr) variant details
- p.Ala622Thr
- rs775266057
- ClinGen CA4852673
- ClinVar RCV000678504
- UniProt VAR 081285
- Pathogenic
- Mungan syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.813
- REVEL 0.85
- CADD 23.60
- PolyPhen-2 0.99
- SIFT 0.12
- ClinVar: Pathogenic (Mungan syndrome)
- EBI: Pathogenic (in MGS)
- UniProt: Pathogenic (in MGS)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Familial visceral myopathy with pseudo-obstruction, megaduodenum, Barrett's esophagus, and cardiac abnormalities. (PMID 14638363)
- Cited in: Mutations in RAD21 disrupt regulation of APOB in patients with chronic intestinal pseudo-obstruction. (PMID 25575569)