N121K (p.Asn121Lys) variant of MMADHC (Q9H3L0)
N121K (p.Asn121Lys) in MMADHC (Q9H3L0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
N121K (p.Asn121Lys) variant details
- p.Asn121Lys
- gnomAD rs1161677408
- Missense
- Variant Prioritization Score for Impact Estimate 0.356
- REVEL 0.36
- CADD 21.40
- PolyPhen-2 0.12
- SIFT 0.18
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available