P54H (p.Pro54His) variant of TNNC1 (P63316)
P54H (p.Pro54His) in TNNC1 (P63316) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes structural context.
P54H (p.Pro54His) variant details
- p.Pro54His
- rs876661393
- ClinGen CA10581146
- ClinVar RCV000223755
- ClinVar RCV000483835
- Conflicting interpretations
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.434
- AlphaMissense 0.54
- MetaLR 0.39
- MetaSVM -0.18
- PolyPhen-2 0.97
- SIFT 0.01
- EVE 0.23
- ClinVar: Conflicting classifications of pathogenicity (not provided)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available