S49G (p.Ser49Gly) variant of TSHR (Thyrotropin receptor)
S49G (p.Ser49Gly) in TSHR (Thyrotropin receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
S49G (p.Ser49Gly) variant details
- p.Ser49Gly
- rs147137913
- ClinGen CA162625
- cosmic curated COSV10731
- ClinVar RCV000122243
- Conflicting interpretations
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.194
- REVEL 0.10
- CADD 20.10
- PolyPhen-2 0.01
- SIFT 0.38
- ClinVar: Conflicting classifications of pathogenicity (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.0017)
- Structural context available