N30S (p.Asn30Ser) variant of ETFA (P13804)
N30S (p.Asn30Ser) in ETFA (P13804) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
N30S (p.Asn30Ser) variant details
- p.Asn30Ser
- ESP rs377156231
- ExAC rs377156231
- gnomAD rs377156231
- Missense
- Variant Prioritization Score for Impact Estimate 0.477
- REVEL 0.38
- ESM-1b 0.62
- AlphaMissense 0.08
- CADD 23.60
- PolyPhen-2 0.02
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available