D72N (p.Asp72Asn) variant of CD3E (P07766)
D72N (p.Asp72Asn) in CD3E (P07766) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.07 / 1. The record also includes population frequency data and structural context.
D72N (p.Asp72Asn) variant details
- p.Asp72Asn
- rs780235352
- NCI-TCGA Cosmic COSV6234
- cosmic curated COSV62345
- ExAC rs780235352
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.0749
- REVEL 0.00
- MetaLR 0.03
- MetaSVM -1.02
- CADD 0.03
- PolyPhen-2 0.00
- SIFT 0.46
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available