P71S (p.Pro71Ser) variant of PTH (Parathyroid hormone)
P71S (p.Pro71Ser) in PTH (Parathyroid hormone) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data.
P71S (p.Pro71Ser) variant details
- p.Pro71Ser
- rs2499939587
- ClinGen CA379724603
- ClinVar RCV004162699
- Likely benign
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.112
- REVEL 0.08
- MetaLR 0.17
- MetaSVM -0.98
- CADD 0.46
- PolyPhen-2 0.00
- SIFT 0.94
- ClinVar: Likely benign (not specified)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 4.8e-05)