Y71C (p.Tyr71Cys) variant of TGFB2 (P61812)
Y71C (p.Tyr71Cys) in TGFB2 (P61812) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
Y71C (p.Tyr71Cys) variant details
- p.Tyr71Cys
- gnomAD 1-218346913-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.817
- REVEL 0.91
- CADD 32.00
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available