K30K (p.Lys30Lys) variant of TGFBR2 (TGF-beta receptor type-2)
K30K (p.Lys30Lys) in TGFBR2 (TGF-beta receptor type-2) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
K30K (p.Lys30Lys) variant details
- p.Lys30Lys
- gnomAD 3-30606973-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.557
- CADD 15.50
- Most common in the African/African-American population (allele frequency 6e-05)
- Structural context available
- Literature evidence available