P162L (p.Pro162Leu) variant of TSHR (Thyrotropin receptor)
P162L (p.Pro162Leu) in TSHR (Thyrotropin receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Hypothyroidism due to TSH receptor mutations; Familial gestational hyperthyroidi. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
P162L (p.Pro162Leu) variant details
- p.Pro162Leu
- cosmic curated COSV53327
- ExAC rs779349574
- gnomAD rs779349574
- Likely pathogenic
- Hypothyroidism due to TSH receptor mutations; Familial gestational hyperthyroidi
- Missense
- Variant Prioritization Score for Impact Estimate 0.373
- REVEL 0.25
- CADD 17.60
- PolyPhen-2 0.08
- SIFT 1.00
- ClinVar: Likely pathogenic (Hypothyroidism due to TSH receptor mutations; Familial gestation)
- EBI: Likely pathogenic (in CHNG1)
- UniProt: Likely pathogenic (in CHNG1)
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Structural context available