R70C (p.Arg70Cys) variant of NKX2-5 (Homeobox protein Nkx-2.5)
R70C (p.Arg70Cys) in NKX2-5 (Homeobox protein Nkx-2.5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
R70C (p.Arg70Cys) variant details
- p.Arg70Cys
- cosmic curated COSV61298
- Ensembl rs2113906257
- Missense
- Variant Prioritization Score for Impact Estimate 0.465
- REVEL 0.28
- CADD 22.40
- PolyPhen-2 0.25
- SIFT 0.05
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available