N72K (p.Asn72Lys) variant of TGFB2 (P61812)
N72K (p.Asn72Lys) in TGFB2 (P61812) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
N72K (p.Asn72Lys) variant details
- p.Asn72Lys
- gnomAD 1-218346917-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.551
- REVEL 0.51
- CADD 26.30
- PolyPhen-2 0.52
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available