N83S (p.Asn83Ser) variant of LRP2 (P98164)
N83S (p.Asn83Ser) in LRP2 (P98164) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of not provided; not specified; Donnai-Barrow syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.07 / 1. The record also includes population frequency data, published literature, and structural context.
N83S (p.Asn83Ser) variant details
- p.Asn83Ser
- rs2229263
- ClinGen CA153570
- cosmic curated COSV55541
- ClinVar RCV000117519
- Benign
- not provided; not specified; Donnai-Barrow syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.0746
- CADD 0.03
- PolyPhen-2 0.01
- SIFT 0.87
- ClinVar: Benign (not provided; not specified; Donnai-Barrow syndrome)
- EBI: Benign (in dbSNP:rs2229263)
- UniProt: Benign (in dbSNP:rs2229263)
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available
- Cited in: Cloning and sequencing of human gp330, a Ca(2+)-binding receptor with potential intracellular signaling properties. (PMID 8706697)
- Cited in: Donnai-Barrow Syndrome. (PMID 20301732)