Q58E (p.Gln58Glu) variant of TNNC1 (P63316)
Q58E (p.Gln58Glu) in TNNC1 (P63316) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
Q58E (p.Gln58Glu) variant details
- p.Gln58Glu
- rs2085729446
- gnomAD 19-55156308-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.412
- REVEL 0.20
- CADD 19.40
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available
- Literature evidence available