T204R (p.Thr204Arg) variant of LPA (Apolipoprotein(a))
T204R (p.Thr204Arg) in LPA (Apolipoprotein(a)) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
T204R (p.Thr204Arg) variant details
- p.Thr204Arg
- gnomAD rs1327153515
- Missense
- Variant Prioritization Score for Impact Estimate 0.496
- REVEL 0.34
- MetaLR 0.56
- MetaSVM -0.39
- CADD 25.40
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the East Asian population (allele frequency 0.00023)
- Structural context available