L89I (p.Leu89Ile) variant of SRD5A2 (P31213)
L89I (p.Leu89Ile) in SRD5A2 (P31213) is a missense change. Clinical records from EBI and UniProt describe it as benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
L89I (p.Leu89Ile) variant details
- p.Leu89Ile
- 1000Genomes rs523349
- ESP rs523349
- ExAC rs523349
- TOPMed rs523349
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.209
- CADD 5.44
- PolyPhen-2 0.01
- SIFT 0.51
- EBI: Benign
- UniProt: Benign
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available