V13A (p.Val13Ala) variant of PTH (Parathyroid hormone)
V13A (p.Val13Ala) in PTH (Parathyroid hormone) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
V13A (p.Val13Ala) variant details
- p.Val13Ala
- Ensembl rs2134093288
- Missense
- Variant Prioritization Score for Impact Estimate 0.481
- REVEL 0.48
- MetaLR 0.52
- MetaSVM -0.11
- CADD 23.20
- PolyPhen-2 0.26
- SIFT 0.02
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available