N104S (p.Asn104Ser) variant of ETFA (P13804)
N104S (p.Asn104Ser) in ETFA (P13804) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
N104S (p.Asn104Ser) variant details
- p.Asn104Ser
- TOPMed rs1311174318
- gnomAD rs1311174318
- Missense
- Variant Prioritization Score for Impact Estimate 0.174
- REVEL 0.22
- ESM-1b 0.00
- AlphaMissense 0.06
- CADD 6.46
- PolyPhen-2 0.00
- SIFT 0.29
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Structural context available