K49R (p.Lys49Arg) variant of TGFB2 (P61812)
K49R (p.Lys49Arg) 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.
K49R (p.Lys49Arg) variant details
- p.Lys49Arg
- gnomAD 1-218346847-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.374
- REVEL 0.21
- CADD 22.50
- PolyPhen-2 0.01
- SIFT 1.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available