N25D (p.Asn25Asp) variant of CD3E (P07766)
N25D (p.Asn25Asp) in CD3E (P07766) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Immunodeficiency 18. 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.
N25D (p.Asn25Asp) variant details
- p.Asn25Asp
- rs201867379
- ClinGen CA6301587
- ClinVar RCV000385303
- ExAC rs201867379
- Uncertain significance
- Immunodeficiency 18
- Missense
- Variant Prioritization Score for Impact Estimate 0.0631
- REVEL 0.01
- MetaLR 0.06
- MetaSVM -1.03
- CADD 0.01
- PolyPhen-2 0.00
- SIFT 0.65
- ClinVar: Uncertain significance (Immunodeficiency 18)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available