N34K (p.Asn34Lys) variant of FOXI1 (Forkhead box protein I1)
N34K (p.Asn34Lys) in FOXI1 (Forkhead box protein I1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
N34K (p.Asn34Lys) variant details
- p.Asn34Lys
- gnomAD 5-170106059-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.546
- REVEL 0.60
- MetaLR 0.83
- MetaSVM 0.62
- CADD 23.30
- PolyPhen-2 0.54
- SIFT 0.03
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available
- Literature evidence available