N98S (p.Asn98Ser) variant of TGM1 (P22735)
N98S (p.Asn98Ser) in TGM1 (P22735) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
N98S (p.Asn98Ser) variant details
- p.Asn98Ser
- TOPMed rs575342998
- gnomAD rs575342998
- Missense
- Variant Prioritization Score for Impact Estimate 0.304
- REVEL 0.24
- CADD 13.80
- PolyPhen-2 0.09
- SIFT 0.58
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available