S7N (p.Ser7Asn) variant of TGFB2 (P61812)
S7N (p.Ser7Asn) 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 0.36 / 1. The record also includes population frequency data and structural context.
S7N (p.Ser7Asn) variant details
- p.Ser7Asn
- ExAC rs765477784
- gnomAD rs765477784
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.362
- REVEL 0.16
- CADD 22.70
- PolyPhen-2 0.02
- SIFT 0.32
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available