P65A (p.Pro65Ala) variant of TGFB2 (P61812)
P65A (p.Pro65Ala) in TGFB2 (P61812) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
P65A (p.Pro65Ala) variant details
- p.Pro65Ala
- ExAC rs747128130
- TOPMed rs747128130
- gnomAD rs747128130
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.225
- REVEL 0.04
- CADD 17.50
- PolyPhen-2 0.01
- SIFT 0.71
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available