S98R (p.Ser98Arg) variant of NKX2-5 (Homeobox protein Nkx-2.5)
S98R (p.Ser98Arg) in NKX2-5 (Homeobox protein Nkx-2.5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data and structural context.
S98R (p.Ser98Arg) variant details
- p.Ser98Arg
- gnomAD rs1394343969
- Missense
- Variant Prioritization Score for Impact Estimate 0.142
- REVEL 0.11
- CADD 15.10
- PolyPhen-2 0.01
- SIFT 0.48
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available