E71K (p.Glu71Lys) variant of TNNT2 (Troponin T, cardiac muscle)
E71K (p.Glu71Lys) in TNNT2 (Troponin T, cardiac muscle) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data and structural context.
E71K (p.Glu71Lys) variant details
- p.Glu71Lys
- cosmic curated COSV52664
- gnomAD rs1375419048
- Missense
- Variant Prioritization Score for Impact Estimate 0.751
- CADD 24.80
- PolyPhen-2 0.39
- SIFT 0.04
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available