P58S (p.Pro58Ser) variant of TGFB2 (P61812)
P58S (p.Pro58Ser) in TGFB2 (P61812) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Loeys-Dietz syndrome 4. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
P58S (p.Pro58Ser) variant details
- p.Pro58Ser
- rs1359839189
- ClinGen CA344725448
- ClinVar RCV003862465
- gnomAD rs1359839189
- Uncertain significance
- Loeys-Dietz syndrome 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.38
- REVEL 0.12
- CADD 22.00
- PolyPhen-2 0.14
- SIFT 0.49
- ClinVar: Uncertain significance (Loeys-Dietz syndrome 4)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available
- Cited in: Loeys-Dietz Syndrome. (PMID 20301312)