A2S (p.Ala2Ser) variant of ZRSR2 (Q15696)
A2S (p.Ala2Ser) in ZRSR2 (Q15696) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
A2S (p.Ala2Ser) variant details
- p.Ala2Ser
- gnomAD X-15790499-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.29
- REVEL 0.06
- MetaLR 0.07
- MetaSVM -1.04
- CADD 22.80
- PolyPhen-2 0.06
- SIFT 0.06
- Most common in the Non-Finnish European population (allele frequency 9.8e-06)
- Structural context available
- Literature evidence available