S126F (p.Ser126Phe) variant of PPARGC1A (Q9UBK2)
S126F (p.Ser126Phe) in PPARGC1A (Q9UBK2) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
S126F (p.Ser126Phe) variant details
- p.Ser126Phe
- NCI-TCGA Cosmic COSV5352
- NCI-TCGA Cosmic COSV9933
- cosmic curated COSV99337
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.426
- REVEL 0.23
- CADD 27.60
- PolyPhen-2 0.99
- SIFT 0.01
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available