N30K (p.Asn30Lys) variant of FOXG1 (Forkhead box protein G1)
N30K (p.Asn30Lys) in FOXG1 (Forkhead box protein G1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
N30K (p.Asn30Lys) variant details
- p.Asn30Lys
- gnomAD 14-28767369-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.274
- REVEL 0.07
- MetaLR 0.08
- MetaSVM -0.99
- CADD 22.20
- PolyPhen-2 0.00
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9.7e-07)
- Structural context available
- Literature evidence available