P71A (p.Pro71Ala) variant of PTH (Parathyroid hormone)
P71A (p.Pro71Ala) in PTH (Parathyroid hormone) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data and published literature.
P71A (p.Pro71Ala) variant details
- p.Pro71Ala
- gnomAD 11-13492542-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.116
- REVEL 0.09
- MetaLR 0.25
- MetaSVM -0.92
- CADD 1.39
- PolyPhen-2 0.00
- SIFT 0.31
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Literature evidence available