R75H (p.Arg75His) variant of NKX2-5 (Homeobox protein Nkx-2.5)
R75H (p.Arg75His) in NKX2-5 (Homeobox protein Nkx-2.5) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
R75H (p.Arg75His) variant details
- p.Arg75His
- rs1363174603
- NCI-TCGA Cosmic COSV6129
- cosmic curated COSV61298
- gnomAD rs1363174603
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.34
- REVEL 0.27
- CADD 21.00
- PolyPhen-2 0.00
- SIFT 0.13
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available