N64H (p.Asn64His) variant of PTH (Parathyroid hormone)
N64H (p.Asn64His) in PTH (Parathyroid hormone) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
N64H (p.Asn64His) variant details
- p.Asn64His
- gnomAD 11-13492563-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.486
- REVEL 0.50
- MetaLR 0.59
- MetaSVM 0.06
- CADD 22.80
- PolyPhen-2 0.97
- SIFT 0.19
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available
- Literature evidence available