S7P (p.Ser7Pro) variant of ISCA2 (Iron-sulfur cluster assembly 2 homolog, mitochondrial)
S7P (p.Ser7Pro) in ISCA2 (Iron-sulfur cluster assembly 2 homolog, mitochondrial) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
S7P (p.Ser7Pro) variant details
- p.Ser7Pro
- gnomAD 14-74493793-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.191
- REVEL 0.24
- CADD 8.29
- PolyPhen-2 0.00
- SIFT 0.30
- Population evidence available
- Structural context available
- Literature evidence available