P202L (p.Pro202Leu) variant of NKX2-1 (Homeobox protein Nkx-2.1)
P202L (p.Pro202Leu) in NKX2-1 (Homeobox protein Nkx-2.1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Inborn genetic diseases; Brain-lung-thyroid syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes published literature and structural context.
P202L (p.Pro202Leu) variant details
- p.Pro202Leu
- rs1881107186
- ClinGen CA389459252
- ClinVar RCV001266030
- ClinVar RCV001329567
- Pathogenic/Likely pathogenic
- Inborn genetic diseases; Brain-lung-thyroid syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.854
- AlphaMissense 1.00
- MetaLR 0.86
- MetaSVM 0.88
- PolyPhen-2 0.10
- SIFT 0.00
- EVE 0.98
- ClinVar: Pathogenic/Likely pathogenic (Inborn genetic diseases; Brain-lung-thyroid syndrome)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: NKX2-1-Related Disorders. (PMID 24555207)
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)