S30F (p.Ser30Phe) variant of TSC2 (Tuberin)
S30F (p.Ser30Phe) in TSC2 (Tuberin) is a missense change. Clinical records from EBI and UniProt describe it as benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
S30F (p.Ser30Phe) variant details
- p.Ser30Phe
- NCI-TCGA Cosmic COSV5459
- gnomAD rs1425163522
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.346
- REVEL 0.18
- CADD 22.80
- PolyPhen-2 0.17
- SIFT 0.07
- EBI: Benign
- UniProt: Benign
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available