A21S (p.Ala21Ser) variant of TGFBR1 (TGF-beta receptor type-1)
A21S (p.Ala21Ser) in TGFBR1 (TGF-beta receptor type-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data and structural context.
A21S (p.Ala21Ser) variant details
- p.Ala21Ser
- Ensembl rs2118165520
- Missense
- Variant Prioritization Score for Impact Estimate 0.156
- REVEL 0.11
- CADD 9.81
- PolyPhen-2 0.00
- SIFT 0.76
- Population evidence available
- Structural context available