N41D (p.Asn41Asp) variant of PTH (Parathyroid hormone)
N41D (p.Asn41Asp) in PTH (Parathyroid hormone) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
N41D (p.Asn41Asp) variant details
- p.Asn41Asp
- gnomAD 11-13492632-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.344
- REVEL 0.31
- MetaLR 0.39
- MetaSVM -0.29
- CADD 18.50
- PolyPhen-2 0.07
- SIFT 0.22
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available
- Literature evidence available