P64R (p.Pro64Arg) variant of NKX2-5 (Homeobox protein Nkx-2.5)
P64R (p.Pro64Arg) in NKX2-5 (Homeobox protein Nkx-2.5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
P64R (p.Pro64Arg) variant details
- p.Pro64Arg
- ExAC rs763458137
- gnomAD rs763458137
- Missense
- Variant Prioritization Score for Impact Estimate 0.276
- REVEL 0.10
- CADD 19.20
- PolyPhen-2 0.00
- SIFT 0.07
- Population evidence available
- Structural context available