N25S (p.Asn25Ser) variant of TNNI3 (Troponin I, cardiac muscle)
N25S (p.Asn25Ser) in TNNI3 (Troponin I, cardiac muscle) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
N25S (p.Asn25Ser) variant details
- p.Asn25Ser
- rs1555864368
- ClinGen CA407443029
- ClinVar RCV003443297
- Ensembl rs1555864368
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.452
- REVEL 0.37
- AlphaMissense 0.16
- MetaLR 0.65
- MetaSVM 0.27
- CADD 22.70
- PolyPhen-2 0.26
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available