E35K (p.Glu35Lys) variant of TNNI1 (Troponin I, slow skeletal muscle)
E35K (p.Glu35Lys) in TNNI1 (Troponin I, slow skeletal muscle) 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 0.34 / 1. The record also includes population frequency data and structural context.
E35K (p.Glu35Lys) variant details
- p.Glu35Lys
- rs199605300
- cosmic curated COSV60188
- ESP rs199605300
- ExAC rs199605300
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.338
- REVEL 0.20
- CADD 17.50
- PolyPhen-2 0.03
- SIFT 0.56
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Latino/Admixed American population (allele frequency 0.00026)
- Structural context available