P21R (p.Pro21Arg) variant of ISCA2 (Iron-sulfur cluster assembly 2 homolog, mitochondrial)
P21R (p.Pro21Arg) 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 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
P21R (p.Pro21Arg) variant details
- p.Pro21Arg
- gnomAD 14-74493836-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.135
- REVEL 0.06
- CADD 5.88
- PolyPhen-2 0.00
- SIFT 0.38
- Population evidence available
- Structural context available
- Literature evidence available