S2L (p.Ser2Leu) variant of SIX1 (Homeobox protein SIX1)
S2L (p.Ser2Leu) in SIX1 (Homeobox protein SIX1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data, experimental measurements, and structural context.
S2L (p.Ser2Leu) variant details
- p.Ser2Leu
- cosmic curated COSV10955
- Missense
- Variant Prioritization Score for Impact Estimate 0.729
- CADD 23.80
- PolyPhen-2 0.01
- SIFT 0.00
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available
- SIX1 Homeobox domain domainome 1.0: score 0.212