A8V (p.Ala8Val) variant of TGFB2 (P61812)
A8V (p.Ala8Val) in TGFB2 (P61812) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
A8V (p.Ala8Val) variant details
- p.Ala8Val
- ExAC rs763141894
- TOPMed rs763141894
- Missense
- Variant Prioritization Score for Impact Estimate 0.257
- REVEL 0.07
- CADD 15.20
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available