P49S (p.Pro49Ser) variant of NKX2-1 (Homeobox protein Nkx-2.1)
P49S (p.Pro49Ser) in NKX2-1 (Homeobox protein Nkx-2.1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data and structural context.
P49S (p.Pro49Ser) variant details
- p.Pro49Ser
- Ensembl rs61997695
- Missense
- Variant Prioritization Score for Impact Estimate 0.677
- REVEL 0.59
- CADD 28.30
- PolyPhen-2 0.78
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available