P3S (p.Pro3Ser) variant of LDLR (Low-density lipoprotein receptor)
P3S (p.Pro3Ser) in LDLR (Low-density lipoprotein receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data, published literature, and structural context.
P3S (p.Pro3Ser) variant details
- p.Pro3Ser
- rs1048561668
- gnomAD 19-11090607-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.0949
- CADD 6.74
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available
- Literature evidence available