D127N (p.Asp127Asn) variant of TNFRSF9 (Q07011)
D127N (p.Asp127Asn) in TNFRSF9 (Q07011) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
D127N (p.Asp127Asn) variant details
- p.Asp127Asn
- rs759670379
- NCI-TCGA Cosmic COSV6634
- cosmic curated COSV66348
- ExAC rs759670379
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.184
- REVEL 0.06
- CADD 17.10
- PolyPhen-2 0.10
- SIFT 0.21
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the HGDP:MBUTI population (allele frequency 0.042)
- Structural context available