A63T (p.Ala63Thr) variant of LRP2 (P98164)
A63T (p.Ala63Thr) in LRP2 (P98164) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
A63T (p.Ala63Thr) variant details
- p.Ala63Thr
- rs759579869
- ClinGen CA1955976
- NCI-TCGA Cosmic COSV5556
- cosmic curated COSV55566
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.186
- CADD 16.80
- PolyPhen-2 0.11
- SIFT 0.16
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available