D6V (p.Asp6Val) variant of PTH (Parathyroid hormone)
D6V (p.Asp6Val) in PTH (Parathyroid hormone) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
D6V (p.Asp6Val) variant details
- p.Asp6Val
- gnomAD 11-13492839-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.208
- REVEL 0.15
- MetaLR 0.38
- MetaSVM -0.74
- CADD 11.60
- PolyPhen-2 0.01
- SIFT 0.05
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available
- Literature evidence available