K81N (p.Lys81Asn) variant of NKX2-5 (Homeobox protein Nkx-2.5)
K81N (p.Lys81Asn) in NKX2-5 (Homeobox protein Nkx-2.5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
K81N (p.Lys81Asn) variant details
- p.Lys81Asn
- gnomAD rs1172891428
- Missense
- Variant Prioritization Score for Impact Estimate 0.333
- REVEL 0.26
- CADD 20.60
- PolyPhen-2 0.61
- SIFT 0.35
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available