A2G (p.Ala2Gly) variant of INSR (Insulin receptor)
A2G (p.Ala2Gly) in INSR (Insulin receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of not specified; not provided; Insulin-resistant diabetes mellitus AND acanthosis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
A2G (p.Ala2Gly) variant details
- p.Ala2Gly
- rs7508518
- ClinGen CA200288
- cosmic curated COSV10513
- ClinVar RCV000173085
- Benign
- not specified; not provided; Insulin-resistant diabetes mellitus AND acanthosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.223
- REVEL 0.16
- MetaLR 0.00
- MetaSVM -0.96
- CADD 12.70
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Benign (not specified; not provided; Insulin-resistant diabetes mellitus)
- EBI: Benign (in dbSNP:rs7508518)
- UniProt: Benign (in dbSNP:rs7508518)
- Most common in the REMAINING population (allele frequency 1)
- Structural context available
- Cited in: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID 15489334)
- Cited in: Human insulin-receptor gene. Partial sequence and amplification of exons by polymerase chain reaction. (PMID 2210055)