M6T (p.Met6Thr) variant of EDN1 (Endothelin-1)
M6T (p.Met6Thr) in EDN1 (Endothelin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
M6T (p.Met6Thr) variant details
- p.Met6Thr
- gnomAD 6-12290646-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.503
- REVEL 0.47
- MetaLR 0.45
- MetaSVM -0.24
- CADD 24.10
- PolyPhen-2 0.05
- SIFT 0.08
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available
- Literature evidence available