E31K (p.Glu31Lys) variant of TNNT2 (Troponin T, cardiac muscle)
E31K (p.Glu31Lys) in TNNT2 (Troponin T, cardiac muscle) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data.
E31K (p.Glu31Lys) variant details
- p.Glu31Lys
- cosmic curated COSV52665
- gnomAD rs929267187
- Missense
- Variant Prioritization Score for Impact Estimate 0.303
- CADD 20.80
- PolyPhen-2 0.01
- SIFT 0.22
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)