M11R (p.Met11Arg) variant of PTH (Parathyroid hormone)
M11R (p.Met11Arg) in PTH (Parathyroid hormone) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
M11R (p.Met11Arg) variant details
- p.Met11Arg
- gnomAD 11-13492824-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.602
- REVEL 0.56
- MetaLR 0.38
- MetaSVM -0.49
- CADD 22.20
- PolyPhen-2 0.18
- SIFT 0.02
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available
- Literature evidence available