N42S (p.Asn42Ser) variant of MECOM (Q03112)
N42S (p.Asn42Ser) in MECOM (Q03112) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.07 / 1. The record also includes population frequency data.
N42S (p.Asn42Ser) variant details
- p.Asn42Ser
- cosmic curated COSV72109
- Missense
- Variant Prioritization Score for Impact Estimate 0.0707
- CADD 0.06
- PolyPhen-2 0.00
- SIFT 0.74
- Most common in the Non-Finnish European population (allele frequency 9e-07)