D33N (p.Asp33Asn) variant of TNNC1 (P63316)
D33N (p.Asp33Asn) in TNNC1 (P63316) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes structural context.
D33N (p.Asp33Asn) variant details
- p.Asp33Asn
- rs727503494
- ClinGen CA178252
- ClinVar RCV000152067
- Ensembl rs727503494
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.657
- AlphaMissense 0.24
- MetaLR 0.90
- MetaSVM 0.99
- PolyPhen-2 0.99
- SIFT 0.01
- EVE 0.19
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available