K63T (p.Lys63Thr) variant of ANGPTL3 (Angiopoietin-related protein 3)
K63T (p.Lys63Thr) in ANGPTL3 (Angiopoietin-related protein 3) is a missense change. Clinical records from EBI and UniProt describe it as benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
K63T (p.Lys63Thr) variant details
- p.Lys63Thr
- rs146749211
- UniProt VAR 075670
- ESP rs146749211
- ExAC rs146749211
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.659
- REVEL 0.67
- CADD 25.80
- PolyPhen-2 0.99
- SIFT 0.00
- EBI: Benign
- UniProt: Benign
- Most common in the African/African-American population (allele frequency 0.00053)
- Structural context available
- Cited in: Rare loss-of-function mutations in ANGPTL family members contribute to plasma triglyceride levels in humans. (PMID 19075393)