S60N (p.Ser60Asn) variant of TNNI1 (Troponin I, slow skeletal muscle)
S60N (p.Ser60Asn) in TNNI1 (Troponin I, slow skeletal muscle) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
S60N (p.Ser60Asn) variant details
- p.Ser60Asn
- gnomAD 1-201414528-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.422
- REVEL 0.22
- CADD 19.60
- PolyPhen-2 0.03
- SIFT 0.16
- Population evidence available
- Structural context available
- Literature evidence available