P64S (p.Pro64Ser) variant of TGFB2 (P61812)
P64S (p.Pro64Ser) in TGFB2 (P61812) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
P64S (p.Pro64Ser) variant details
- p.Pro64Ser
- ExAC rs761602500
- gnomAD rs761602500
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.506
- REVEL 0.33
- CADD 22.70
- PolyPhen-2 0.32
- SIFT 0.19
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available