S14I (p.Ser14Ile) variant of ZRSR2 (Q15696)
S14I (p.Ser14Ile) in ZRSR2 (Q15696) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
S14I (p.Ser14Ile) variant details
- p.Ser14Ile
- gnomAD X-15790536-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.353
- REVEL 0.12
- MetaLR 0.06
- MetaSVM -0.91
- CADD 35.00
- PolyPhen-2 0.12
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available