T50S (p.Thr50Ser) variant of LRP2 (P98164)
T50S (p.Thr50Ser) in LRP2 (P98164) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign in the context of not provided; Donnai-Barrow syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
T50S (p.Thr50Ser) variant details
- p.Thr50Ser
- rs114460450
- ClinGen CA1955983
- cosmic curated COSV10437
- ClinVar RCV000305070
- Benign/Likely benign
- not provided; Donnai-Barrow syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.357
- CADD 20.20
- PolyPhen-2 0.57
- SIFT 0.06
- ClinVar: Benign/Likely benign (not provided; Donnai-Barrow syndrome)
- EBI: Benign
- UniProt: Benign
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available
- Cited in: Donnai-Barrow Syndrome. (PMID 20301732)