A57T (p.Ala57Thr) variant of LRP2 (P98164)
A57T (p.Ala57Thr) in LRP2 (P98164) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.06 / 1. The record also includes population frequency data and structural context.
A57T (p.Ala57Thr) variant details
- p.Ala57Thr
- rs147295930
- NCI-TCGA Cosmic COSV5555
- cosmic curated COSV55555
- 1000Genomes rs147295930
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.0574
- CADD 0.00
- PolyPhen-2 0.00
- SIFT 0.33
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available