D29N (p.Asp29Asn) variant of TECRL (Q5HYJ1)
D29N (p.Asp29Asn) in TECRL (Q5HYJ1) 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 0.21 / 1. The record also includes population frequency data and structural context.
D29N (p.Asp29Asn) variant details
- p.Asp29Asn
- NCI-TCGA Cosmic COSV1011
- cosmic curated COSV10116
- NCI-TCGA Cosmic COSV6708
- Ensembl rs1724942337
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.215
- REVEL 0.04
- ESM-1b 0.00
- AlphaMissense 0.08
- CADD 18.60
- PolyPhen-2 0.00
- SIFT 0.16
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 6.4e-06)
- Structural context available