A183S (p.Ala183Ser) variant of ETFA (P13804)
A183S (p.Ala183Ser) in ETFA (P13804) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
A183S (p.Ala183Ser) variant details
- p.Ala183Ser
- gnomAD rs1202119578
- Missense
- Variant Prioritization Score for Impact Estimate 0.507
- REVEL 0.46
- ESM-1b 0.00
- AlphaMissense 0.17
- CADD 23.20
- PolyPhen-2 0.12
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available