S41L (p.Ser41Leu) variant of LDLR (Low-density lipoprotein receptor)
S41L (p.Ser41Leu) in LDLR (Low-density lipoprotein receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
S41L (p.Ser41Leu) variant details
- p.Ser41Leu
- rs969190204
- gnomAD 19-11090632-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.331
- CADD 11.40
- SIFT 0.00
- Most common in the East Asian population (allele frequency 2.8e-05)
- Structural context available
- Literature evidence available