S78P (p.Ser78Pro) variant of MTOR (P42345)
S78P (p.Ser78Pro) in MTOR (P42345) 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 0.52 / 1. The record also includes population frequency data and structural context.
S78P (p.Ser78Pro) variant details
- p.Ser78Pro
- rs1391848499
- ClinGen CA338404770
- ClinVar RCV001964358
- TOPMed rs1391848499
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.516
- REVEL 0.43
- CADD 25.20
- PolyPhen-2 0.83
- SIFT 0.11
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available