P21T (p.Pro21Thr) variant of KCNJ11 (Q14654)
P21T (p.Pro21Thr) in KCNJ11 (Q14654) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Type 1 diabetes mellitus 20; Type 2 diabetes mellitus; Diabetes mellitus type 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
P21T (p.Pro21Thr) variant details
- p.Pro21Thr
- rs1393796559
- ClinGen CA379777433
- ClinVar RCV003336590
- ClinVar RCV005047539
- Uncertain significance
- Type 1 diabetes mellitus 20; Type 2 diabetes mellitus; Diabetes mellitus type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.549
- REVEL 0.44
- CADD 19.10
- PolyPhen-2 0.11
- SIFT 0.63
- ClinVar: Uncertain significance (Type 1 diabetes mellitus 20; Type 2 diabetes mellitus; Diabetes)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Cited in: Permanent Neonatal Diabetes Mellitus. (PMID 20301620)
- Cited in: Nonsyndromic Genetic Hyperinsulinism Overview. (PMID 20301549)