H13D (p.His13Asp) variant of TGFB2 (P61812)
H13D (p.His13Asp) in TGFB2 (P61812) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
H13D (p.His13Asp) variant details
- p.His13Asp
- gnomAD 1-218346738-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.374
- REVEL 0.12
- CADD 20.90
- PolyPhen-2 0.00
- SIFT 0.94
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available