G20A (p.Gly20Ala) variant of LDLR (Low-density lipoprotein receptor)
G20A (p.Gly20Ala) in LDLR (Low-density lipoprotein receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
G20A (p.Gly20Ala) variant details
- p.Gly20Ala
- gnomAD 19-11089607-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.544
- CADD 6.08
- PolyPhen-2 0.00
- SIFT 0.88
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available