S41P (p.Ser41Pro) variant of LDLR (Low-density lipoprotein receptor)
S41P (p.Ser41Pro) in LDLR (Low-density lipoprotein receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
S41P (p.Ser41Pro) variant details
- p.Ser41Pro
- rs1376762437
- gnomAD 19-11090631-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.443
- CADD 9.59
- SIFT 0.00
- Most common in the Middle Eastern population (allele frequency 0.0011)
- Structural context available
- Literature evidence available